Mutation Overview - KIAA1529 - p.T994I(Substitution - Missense)

Cosmic » Mutation » Overview » KIAA1529 » p.T994I / c.2981C>T

Overview

This tab shows an overview of the mutation data [more details]
  • Description:
  • Mutation id:
  • AA Mutation:
  • CDS Mutation:
  • NCBI 36:
  • GRCH 37:
  • Cancer Genome Browser:
  • CDD:
  • Ever confirmed somatic:

Tissue Distribution

This tab displays the distribution of mutated samples and tissue types. [more details]

Samples

This tab displays a table of muated samples, with tissue, histology and zygosity information. Publication information is also included, where available, with links to PUBMED. [more details]
Sample name Gene Name Transcript Primary Tissue Histology Pubmed Id Zygosity Somatic Status

Protein features

This tab displays a table of protein features [more details]
View Identifier Source Feature Start End Status Score
Q9P1Z9 PTHR21444:SF2 PTHR21444:SF2 180 1646 Overlap 100.00
KIAA1529 MWHGNHVQPGATHRPNQGLEMLQGLGIGMKAFHNFNYFLFFYNVLLGLGACLSRLLISCL 60 Q9P1Z9 MWHGNHVQPGATHRPNQGLEMLQGLGIGMKAFHNFNYFLFFYNVLLGLGACLSRLLISCL 60 KIAA1529 LGMWLIARIDRTIMQSGYEGADMGFSAWIGMLYMDHYHINPVLVSFCHILITNHREKKLQ 120 Q9P1Z9 LGMWLIARIDRTIMQSGYEGADMGFSAWIGMLYMDHYHINPVLVSFCHILITNHREKKLQ 120 KIAA1529 QSTKYWCLNQSAESLRICAMRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQP 180 Q9P1Z9 QSTKYWCLNQSAESLRICAMRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQP 180 KIAA1529 AAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVET 240 Q9P1Z9 AAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVET 240 KIAA1529 PEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIV 300 Q9P1Z9 PEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIV 300 KIAA1529 PEKISTSTFQRQAEHKRKSYESALASFQEEIAQVGKEMEPLIVDTGGLFLKKLTESDEEM 360 Q9P1Z9 PEKISTSTFQRQAEHKRKSYESALASFQEEIAQVGKEMEPLIVDTGGLFLKKLTESDEEM 360 KIAA1529 NRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSV 420 Q9P1Z9 NRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSV 420 KIAA1529 LKKYAEVIEKTSYLMRPEVYRLINEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSR 480 Q9P1Z9 LKKYAEVIEKTSYLMRPEVYRLINEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSR 480 KIAA1529 HRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLC 540 Q9P1Z9 HRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLC 540 KIAA1529 TICDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKK 600 Q9P1Z9 TICDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKK 600 KIAA1529 QLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKSFETLADQTEWQSSHLFKY 660 Q9P1Z9 QLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKSFETLADQTEWQSSHLFKY 660 KIAA1529 FQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETL 720 Q9P1Z9 FQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETL 720 KIAA1529 AFHLEKVKDYLKNMKSRYECFHTLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQN 780 Q9P1Z9 AFHLEKVKDYLKNMKSRYECFHTLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQN 780 KIAA1529 LAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEEN 840 Q9P1Z9 LAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEEN 840 KIAA1529 DQEMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQG 900 Q9P1Z9 DQEMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQG 900 KIAA1529 EKKEESEEEDEKEEEEEEEKLEEEKEEKEAQEEQESLSVGEEEDKEEGLEEIYYEDMESF 960 Q9P1Z9 EKKEESEEEDEKEEEEEEEKLEEEKEEKEAQEEQESLSVGEEEDKEEGLEEIYYEDMESF 960 KIAA1529 TISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKQLFSE 1020 Q9P1Z9 TISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKQLFSE 1020 KIAA1529 GGNFSPKEINSLCSRLEKEAARIELVESVIMLNMEKLENEYLDQANDVINKFESKFHNLS 1080 Q9P1Z9 GGNFSPKEINSLCSRLEKEAARIELVESVIMLNMEKLENEYLDQANDVINKFESKFHNLS 1080 KIAA1529 VDLIFIEKIQRLLTNLQVKIKCQVAKSNSQTNGLNFSLQQLQNKIKTCQESRGEKTTVTT 1140 Q9P1Z9 VDLIFIEKIQRLLTNLQVKIKCQVAKSNSQTNGLNFSLQQLQNKIKTCQESRGEKTTVTT 1140 KIAA1529 EELLSFVQTWKEKLSQRIQYLNCSLDRVSMTELVFTNTILKDQEEDSDILTSSEALEEEA 1200 Q9P1Z9 EELLSFVQTWKEKLSQRIQYLNCSLDRVSMTELVFTNTILKDQEEDSDILTSSEALEEEA 1200 KIAA1529 KLDVVTPESFTQLSRVGKPLIEDPAVDVIRKLLQLPNTKWPTHHCDKDPSQTGFKRHRCQ 1260 Q9P1Z9 KLDVVTPESFTQLSRVGKPLIEDPAVDVIRKLLQLPNTKWPTHHCDKDPSQTGFKRHRCQ 1260 KIAA1529 PENSGKKAVPSASATSAGSLQTTHPPLSHSFTPHPKPNKMERKYRVLGDKPPPAAEDFKG 1320 Q9P1Z9 PENSGKKAVPSASATSAGSLQTTHPPLSHSFTPHPKPNKMERKYRVLGDKPPPAAEDFKG 1320 KIAA1529 IILTLLWESSENLLTVAEEFYRKEKRPVTRPDCMCDTFDQCAENISKKILEYQSQANKYH 1380 Q9P1Z9 IILTLLWESSENLLTVAEEFYRKEKRPVTRPDCMCDTFDQCAENISKKILEYQSQANKYH 1380 KIAA1529 NSCLIELRIQIRRFEELLPQVCWLVMENFKEHHWKKFFTSVKEIRGQFEEQQKRLEKRKD 1440 Q9P1Z9 NSCLIELRIQIRRFEELLPQVCWLVMENFKEHHWKKFFTSVKEIRGQFEEQQKRLEKRKD 1440 KIAA1529 KNAQKLHLNLGHPVHFQEMESLHLSEEERQEELDSMIRMNKEKLEECTRRNGQVFITNLA 1500 Q9P1Z9 KNAQKLHLNLGHPVHFQEMESLHLSEEERQEELDSMIRMNKEKLEECTRRNGQVFITNLA 1500 KIAA1529 TFTEKFLLQLDEVVTIDDVQVARMEPPKQKLSMLIRRKLAGLSLKEESEKPLIERGSRKW 1560 Q9P1Z9 TFTEKFLLQLDEVVTIDDVQVARMEPPKQKLSMLIRRKLAGLSLKEESEKPLIERGSRKW 1560 KIAA1529 PGIKPTEVTIQNKILLQPTSSISTTKTTLGHLAAVEARDAVYLKYLASFEEELKRIQDDC 1620 Q9P1Z9 PGIKPTEVTIQNKILLQPTSSISTTKTTLGHLAAVEARDAVYLKYLASFEEELKRIQDDC 1620 KIAA1529 TSQIKEAQRWKDSWKQSLHTIQGLYV Q9P1Z9 TSQIKEAQRWKDSWKQSLHTIQGLYV

More details

Wildtype Residue : T Mutant Position : 994 Mutant label : p.T994I Feature Name :PTHR21444:SF2( 180- 1646 )
Q9P1Z9 PTHR21444 PTHR21444 180 1646 Overlap 100.00
KIAA1529 MWHGNHVQPGATHRPNQGLEMLQGLGIGMKAFHNFNYFLFFYNVLLGLGACLSRLLISCL 60 Q9P1Z9 MWHGNHVQPGATHRPNQGLEMLQGLGIGMKAFHNFNYFLFFYNVLLGLGACLSRLLISCL 60 KIAA1529 LGMWLIARIDRTIMQSGYEGADMGFSAWIGMLYMDHYHINPVLVSFCHILITNHREKKLQ 120 Q9P1Z9 LGMWLIARIDRTIMQSGYEGADMGFSAWIGMLYMDHYHINPVLVSFCHILITNHREKKLQ 120 KIAA1529 QSTKYWCLNQSAESLRICAMRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQP 180 Q9P1Z9 QSTKYWCLNQSAESLRICAMRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQP 180 KIAA1529 AAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVET 240 Q9P1Z9 AAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVET 240 KIAA1529 PEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIV 300 Q9P1Z9 PEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIV 300 KIAA1529 PEKISTSTFQRQAEHKRKSYESALASFQEEIAQVGKEMEPLIVDTGGLFLKKLTESDEEM 360 Q9P1Z9 PEKISTSTFQRQAEHKRKSYESALASFQEEIAQVGKEMEPLIVDTGGLFLKKLTESDEEM 360 KIAA1529 NRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSV 420 Q9P1Z9 NRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSV 420 KIAA1529 LKKYAEVIEKTSYLMRPEVYRLINEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSR 480 Q9P1Z9 LKKYAEVIEKTSYLMRPEVYRLINEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSR 480 KIAA1529 HRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLC 540 Q9P1Z9 HRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLC 540 KIAA1529 TICDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKK 600 Q9P1Z9 TICDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKK 600 KIAA1529 QLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKSFETLADQTEWQSSHLFKY 660 Q9P1Z9 QLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKSFETLADQTEWQSSHLFKY 660 KIAA1529 FQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETL 720 Q9P1Z9 FQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETL 720 KIAA1529 AFHLEKVKDYLKNMKSRYECFHTLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQN 780 Q9P1Z9 AFHLEKVKDYLKNMKSRYECFHTLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQN 780 KIAA1529 LAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEEN 840 Q9P1Z9 LAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEEN 840 KIAA1529 DQEMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQG 900 Q9P1Z9 DQEMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQG 900 KIAA1529 EKKEESEEEDEKEEEEEEEKLEEEKEEKEAQEEQESLSVGEEEDKEEGLEEIYYEDMESF 960 Q9P1Z9 EKKEESEEEDEKEEEEEEEKLEEEKEEKEAQEEQESLSVGEEEDKEEGLEEIYYEDMESF 960 KIAA1529 TISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKQLFSE 1020 Q9P1Z9 TISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKQLFSE 1020 KIAA1529 GGNFSPKEINSLCSRLEKEAARIELVESVIMLNMEKLENEYLDQANDVINKFESKFHNLS 1080 Q9P1Z9 GGNFSPKEINSLCSRLEKEAARIELVESVIMLNMEKLENEYLDQANDVINKFESKFHNLS 1080 KIAA1529 VDLIFIEKIQRLLTNLQVKIKCQVAKSNSQTNGLNFSLQQLQNKIKTCQESRGEKTTVTT 1140 Q9P1Z9 VDLIFIEKIQRLLTNLQVKIKCQVAKSNSQTNGLNFSLQQLQNKIKTCQESRGEKTTVTT 1140 KIAA1529 EELLSFVQTWKEKLSQRIQYLNCSLDRVSMTELVFTNTILKDQEEDSDILTSSEALEEEA 1200 Q9P1Z9 EELLSFVQTWKEKLSQRIQYLNCSLDRVSMTELVFTNTILKDQEEDSDILTSSEALEEEA 1200 KIAA1529 KLDVVTPESFTQLSRVGKPLIEDPAVDVIRKLLQLPNTKWPTHHCDKDPSQTGFKRHRCQ 1260 Q9P1Z9 KLDVVTPESFTQLSRVGKPLIEDPAVDVIRKLLQLPNTKWPTHHCDKDPSQTGFKRHRCQ 1260 KIAA1529 PENSGKKAVPSASATSAGSLQTTHPPLSHSFTPHPKPNKMERKYRVLGDKPPPAAEDFKG 1320 Q9P1Z9 PENSGKKAVPSASATSAGSLQTTHPPLSHSFTPHPKPNKMERKYRVLGDKPPPAAEDFKG 1320 KIAA1529 IILTLLWESSENLLTVAEEFYRKEKRPVTRPDCMCDTFDQCAENISKKILEYQSQANKYH 1380 Q9P1Z9 IILTLLWESSENLLTVAEEFYRKEKRPVTRPDCMCDTFDQCAENISKKILEYQSQANKYH 1380 KIAA1529 NSCLIELRIQIRRFEELLPQVCWLVMENFKEHHWKKFFTSVKEIRGQFEEQQKRLEKRKD 1440 Q9P1Z9 NSCLIELRIQIRRFEELLPQVCWLVMENFKEHHWKKFFTSVKEIRGQFEEQQKRLEKRKD 1440 KIAA1529 KNAQKLHLNLGHPVHFQEMESLHLSEEERQEELDSMIRMNKEKLEECTRRNGQVFITNLA 1500 Q9P1Z9 KNAQKLHLNLGHPVHFQEMESLHLSEEERQEELDSMIRMNKEKLEECTRRNGQVFITNLA 1500 KIAA1529 TFTEKFLLQLDEVVTIDDVQVARMEPPKQKLSMLIRRKLAGLSLKEESEKPLIERGSRKW 1560 Q9P1Z9 TFTEKFLLQLDEVVTIDDVQVARMEPPKQKLSMLIRRKLAGLSLKEESEKPLIERGSRKW 1560 KIAA1529 PGIKPTEVTIQNKILLQPTSSISTTKTTLGHLAAVEARDAVYLKYLASFEEELKRIQDDC 1620 Q9P1Z9 PGIKPTEVTIQNKILLQPTSSISTTKTTLGHLAAVEARDAVYLKYLASFEEELKRIQDDC 1620 KIAA1529 TSQIKEAQRWKDSWKQSLHTIQGLYV Q9P1Z9 TSQIKEAQRWKDSWKQSLHTIQGLYV

More details

Wildtype Residue : T Mutant Position : 994 Mutant label : p.T994I Feature Name :PTHR21444( 180- 1646 )
Q9P1Z9 UniProt:curator Coiled-coil domain-containing protein 180 1 1646 Overlap 100.00
KIAA1529 MWHGNHVQPGATHRPNQGLEMLQGLGIGMKAFHNFNYFLFFYNVLLGLGACLSRLLISCL 60 Q9P1Z9 MWHGNHVQPGATHRPNQGLEMLQGLGIGMKAFHNFNYFLFFYNVLLGLGACLSRLLISCL 60 KIAA1529 LGMWLIARIDRTIMQSGYEGADMGFSAWIGMLYMDHYHINPVLVSFCHILITNHREKKLQ 120 Q9P1Z9 LGMWLIARIDRTIMQSGYEGADMGFSAWIGMLYMDHYHINPVLVSFCHILITNHREKKLQ 120 KIAA1529 QSTKYWCLNQSAESLRICAMRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQP 180 Q9P1Z9 QSTKYWCLNQSAESLRICAMRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQP 180 KIAA1529 AAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVET 240 Q9P1Z9 AAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVET 240 KIAA1529 PEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIV 300 Q9P1Z9 PEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIV 300 KIAA1529 PEKISTSTFQRQAEHKRKSYESALASFQEEIAQVGKEMEPLIVDTGGLFLKKLTESDEEM 360 Q9P1Z9 PEKISTSTFQRQAEHKRKSYESALASFQEEIAQVGKEMEPLIVDTGGLFLKKLTESDEEM 360 KIAA1529 NRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSV 420 Q9P1Z9 NRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSV 420 KIAA1529 LKKYAEVIEKTSYLMRPEVYRLINEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSR 480 Q9P1Z9 LKKYAEVIEKTSYLMRPEVYRLINEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSR 480 KIAA1529 HRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLC 540 Q9P1Z9 HRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLC 540 KIAA1529 TICDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKK 600 Q9P1Z9 TICDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKK 600 KIAA1529 QLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKSFETLADQTEWQSSHLFKY 660 Q9P1Z9 QLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKSFETLADQTEWQSSHLFKY 660 KIAA1529 FQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETL 720 Q9P1Z9 FQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETL 720 KIAA1529 AFHLEKVKDYLKNMKSRYECFHTLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQN 780 Q9P1Z9 AFHLEKVKDYLKNMKSRYECFHTLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQN 780 KIAA1529 LAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEEN 840 Q9P1Z9 LAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEEN 840 KIAA1529 DQEMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQG 900 Q9P1Z9 DQEMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQG 900 KIAA1529 EKKEESEEEDEKEEEEEEEKLEEEKEEKEAQEEQESLSVGEEEDKEEGLEEIYYEDMESF 960 Q9P1Z9 EKKEESEEEDEKEEEEEEEKLEEEKEEKEAQEEQESLSVGEEEDKEEGLEEIYYEDMESF 960 KIAA1529 TISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKQLFSE 1020 Q9P1Z9 TISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKQLFSE 1020 KIAA1529 GGNFSPKEINSLCSRLEKEAARIELVESVIMLNMEKLENEYLDQANDVINKFESKFHNLS 1080 Q9P1Z9 GGNFSPKEINSLCSRLEKEAARIELVESVIMLNMEKLENEYLDQANDVINKFESKFHNLS 1080 KIAA1529 VDLIFIEKIQRLLTNLQVKIKCQVAKSNSQTNGLNFSLQQLQNKIKTCQESRGEKTTVTT 1140 Q9P1Z9 VDLIFIEKIQRLLTNLQVKIKCQVAKSNSQTNGLNFSLQQLQNKIKTCQESRGEKTTVTT 1140 KIAA1529 EELLSFVQTWKEKLSQRIQYLNCSLDRVSMTELVFTNTILKDQEEDSDILTSSEALEEEA 1200 Q9P1Z9 EELLSFVQTWKEKLSQRIQYLNCSLDRVSMTELVFTNTILKDQEEDSDILTSSEALEEEA 1200 KIAA1529 KLDVVTPESFTQLSRVGKPLIEDPAVDVIRKLLQLPNTKWPTHHCDKDPSQTGFKRHRCQ 1260 Q9P1Z9 KLDVVTPESFTQLSRVGKPLIEDPAVDVIRKLLQLPNTKWPTHHCDKDPSQTGFKRHRCQ 1260 KIAA1529 PENSGKKAVPSASATSAGSLQTTHPPLSHSFTPHPKPNKMERKYRVLGDKPPPAAEDFKG 1320 Q9P1Z9 PENSGKKAVPSASATSAGSLQTTHPPLSHSFTPHPKPNKMERKYRVLGDKPPPAAEDFKG 1320 KIAA1529 IILTLLWESSENLLTVAEEFYRKEKRPVTRPDCMCDTFDQCAENISKKILEYQSQANKYH 1380 Q9P1Z9 IILTLLWESSENLLTVAEEFYRKEKRPVTRPDCMCDTFDQCAENISKKILEYQSQANKYH 1380 KIAA1529 NSCLIELRIQIRRFEELLPQVCWLVMENFKEHHWKKFFTSVKEIRGQFEEQQKRLEKRKD 1440 Q9P1Z9 NSCLIELRIQIRRFEELLPQVCWLVMENFKEHHWKKFFTSVKEIRGQFEEQQKRLEKRKD 1440 KIAA1529 KNAQKLHLNLGHPVHFQEMESLHLSEEERQEELDSMIRMNKEKLEECTRRNGQVFITNLA 1500 Q9P1Z9 KNAQKLHLNLGHPVHFQEMESLHLSEEERQEELDSMIRMNKEKLEECTRRNGQVFITNLA 1500 KIAA1529 TFTEKFLLQLDEVVTIDDVQVARMEPPKQKLSMLIRRKLAGLSLKEESEKPLIERGSRKW 1560 Q9P1Z9 TFTEKFLLQLDEVVTIDDVQVARMEPPKQKLSMLIRRKLAGLSLKEESEKPLIERGSRKW 1560 KIAA1529 PGIKPTEVTIQNKILLQPTSSISTTKTTLGHLAAVEARDAVYLKYLASFEEELKRIQDDC 1620 Q9P1Z9 PGIKPTEVTIQNKILLQPTSSISTTKTTLGHLAAVEARDAVYLKYLASFEEELKRIQDDC 1620 KIAA1529 TSQIKEAQRWKDSWKQSLHTIQGLYV Q9P1Z9 TSQIKEAQRWKDSWKQSLHTIQGLYV

More details

Wildtype Residue : T Mutant Position : 994 Mutant label : p.T994I Feature Name :Coiled-coil domain-containing protein 180( 1- 1646 )
Q9P1Z9 UniProt:curator UNIPROTKB_Q9P1Z9_VAR_SEQ_1_1523 1 1523 Overlap 100.00
KIAA1529 MWHGNHVQPGATHRPNQGLEMLQGLGIGMKAFHNFNYFLFFYNVLLGLGACLSRLLISCL 60 Q9P1Z9 MWHGNHVQPGATHRPNQGLEMLQGLGIGMKAFHNFNYFLFFYNVLLGLGACLSRLLISCL 60 KIAA1529 LGMWLIARIDRTIMQSGYEGADMGFSAWIGMLYMDHYHINPVLVSFCHILITNHREKKLQ 120 Q9P1Z9 LGMWLIARIDRTIMQSGYEGADMGFSAWIGMLYMDHYHINPVLVSFCHILITNHREKKLQ 120 KIAA1529 QSTKYWCLNQSAESLRICAMRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQP 180 Q9P1Z9 QSTKYWCLNQSAESLRICAMRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQP 180 KIAA1529 AAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVET 240 Q9P1Z9 AAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVET 240 KIAA1529 PEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIV 300 Q9P1Z9 PEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIV 300 KIAA1529 PEKISTSTFQRQAEHKRKSYESALASFQEEIAQVGKEMEPLIVDTGGLFLKKLTESDEEM 360 Q9P1Z9 PEKISTSTFQRQAEHKRKSYESALASFQEEIAQVGKEMEPLIVDTGGLFLKKLTESDEEM 360 KIAA1529 NRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSV 420 Q9P1Z9 NRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSV 420 KIAA1529 LKKYAEVIEKTSYLMRPEVYRLINEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSR 480 Q9P1Z9 LKKYAEVIEKTSYLMRPEVYRLINEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSR 480 KIAA1529 HRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLC 540 Q9P1Z9 HRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLC 540 KIAA1529 TICDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKK 600 Q9P1Z9 TICDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKK 600 KIAA1529 QLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKSFETLADQTEWQSSHLFKY 660 Q9P1Z9 QLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKSFETLADQTEWQSSHLFKY 660 KIAA1529 FQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETL 720 Q9P1Z9 FQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETL 720 KIAA1529 AFHLEKVKDYLKNMKSRYECFHTLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQN 780 Q9P1Z9 AFHLEKVKDYLKNMKSRYECFHTLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQN 780 KIAA1529 LAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEEN 840 Q9P1Z9 LAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEEN 840 KIAA1529 DQEMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQG 900 Q9P1Z9 DQEMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQG 900 KIAA1529 EKKEESEEEDEKEEEEEEEKLEEEKEEKEAQEEQESLSVGEEEDKEEGLEEIYYEDMESF 960 Q9P1Z9 EKKEESEEEDEKEEEEEEEKLEEEKEEKEAQEEQESLSVGEEEDKEEGLEEIYYEDMESF 960 KIAA1529 TISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKQLFSE 1020 Q9P1Z9 TISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKQLFSE 1020 KIAA1529 GGNFSPKEINSLCSRLEKEAARIELVESVIMLNMEKLENEYLDQANDVINKFESKFHNLS 1080 Q9P1Z9 GGNFSPKEINSLCSRLEKEAARIELVESVIMLNMEKLENEYLDQANDVINKFESKFHNLS 1080 KIAA1529 VDLIFIEKIQRLLTNLQVKIKCQVAKSNSQTNGLNFSLQQLQNKIKTCQESRGEKTTVTT 1140 Q9P1Z9 VDLIFIEKIQRLLTNLQVKIKCQVAKSNSQTNGLNFSLQQLQNKIKTCQESRGEKTTVTT 1140 KIAA1529 EELLSFVQTWKEKLSQRIQYLNCSLDRVSMTELVFTNTILKDQEEDSDILTSSEALEEEA 1200 Q9P1Z9 EELLSFVQTWKEKLSQRIQYLNCSLDRVSMTELVFTNTILKDQEEDSDILTSSEALEEEA 1200 KIAA1529 KLDVVTPESFTQLSRVGKPLIEDPAVDVIRKLLQLPNTKWPTHHCDKDPSQTGFKRHRCQ 1260 Q9P1Z9 KLDVVTPESFTQLSRVGKPLIEDPAVDVIRKLLQLPNTKWPTHHCDKDPSQTGFKRHRCQ 1260 KIAA1529 PENSGKKAVPSASATSAGSLQTTHPPLSHSFTPHPKPNKMERKYRVLGDKPPPAAEDFKG 1320 Q9P1Z9 PENSGKKAVPSASATSAGSLQTTHPPLSHSFTPHPKPNKMERKYRVLGDKPPPAAEDFKG 1320 KIAA1529 IILTLLWESSENLLTVAEEFYRKEKRPVTRPDCMCDTFDQCAENISKKILEYQSQANKYH 1380 Q9P1Z9 IILTLLWESSENLLTVAEEFYRKEKRPVTRPDCMCDTFDQCAENISKKILEYQSQANKYH 1380 KIAA1529 NSCLIELRIQIRRFEELLPQVCWLVMENFKEHHWKKFFTSVKEIRGQFEEQQKRLEKRKD 1440 Q9P1Z9 NSCLIELRIQIRRFEELLPQVCWLVMENFKEHHWKKFFTSVKEIRGQFEEQQKRLEKRKD 1440 KIAA1529 KNAQKLHLNLGHPVHFQEMESLHLSEEERQEELDSMIRMNKEKLEECTRRNGQVFITNLA 1500 Q9P1Z9 KNAQKLHLNLGHPVHFQEMESLHLSEEERQEELDSMIRMNKEKLEECTRRNGQVFITNLA 1500 KIAA1529 TFTEKFLLQLDEVVTIDDVQVARMEPPKQKLSMLIRRKLAGLSLKEESEKPLIERGSRKW 1560 Q9P1Z9 TFTEKFLLQLDEVVTIDDVQVARMEPPKQKLSMLIRRKLAGLSLKEESEKPLIERGSRKW 1560 KIAA1529 PGIKPTEVTIQNKILLQPTSSISTTKTTLGHLAAVEARDAVYLKYLASFEEELKRIQDDC 1620 Q9P1Z9 PGIKPTEVTIQNKILLQPTSSISTTKTTLGHLAAVEARDAVYLKYLASFEEELKRIQDDC 1620 KIAA1529 TSQIKEAQRWKDSWKQSLHTIQGLYV Q9P1Z9 TSQIKEAQRWKDSWKQSLHTIQGLYV

More details

Wildtype Residue : T Mutant Position : 994 Mutant label : p.T994I Feature Name :UNIPROTKB_Q9P1Z9_VAR_SEQ_1_1523( 1- 1523 )
Q9P1Z9 UniProt:curator UNIPROTKB_Q9P1Z9_VAR_SEQ_723_1646 723 1646 Overlap 100.00
KIAA1529 MWHGNHVQPGATHRPNQGLEMLQGLGIGMKAFHNFNYFLFFYNVLLGLGACLSRLLISCL 60 Q9P1Z9 MWHGNHVQPGATHRPNQGLEMLQGLGIGMKAFHNFNYFLFFYNVLLGLGACLSRLLISCL 60 KIAA1529 LGMWLIARIDRTIMQSGYEGADMGFSAWIGMLYMDHYHINPVLVSFCHILITNHREKKLQ 120 Q9P1Z9 LGMWLIARIDRTIMQSGYEGADMGFSAWIGMLYMDHYHINPVLVSFCHILITNHREKKLQ 120 KIAA1529 QSTKYWCLNQSAESLRICAMRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQP 180 Q9P1Z9 QSTKYWCLNQSAESLRICAMRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQP 180 KIAA1529 AAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVET 240 Q9P1Z9 AAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVET 240 KIAA1529 PEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIV 300 Q9P1Z9 PEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIV 300 KIAA1529 PEKISTSTFQRQAEHKRKSYESALASFQEEIAQVGKEMEPLIVDTGGLFLKKLTESDEEM 360 Q9P1Z9 PEKISTSTFQRQAEHKRKSYESALASFQEEIAQVGKEMEPLIVDTGGLFLKKLTESDEEM 360 KIAA1529 NRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSV 420 Q9P1Z9 NRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSV 420 KIAA1529 LKKYAEVIEKTSYLMRPEVYRLINEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSR 480 Q9P1Z9 LKKYAEVIEKTSYLMRPEVYRLINEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSR 480 KIAA1529 HRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLC 540 Q9P1Z9 HRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLC 540 KIAA1529 TICDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKK 600 Q9P1Z9 TICDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKK 600 KIAA1529 QLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKSFETLADQTEWQSSHLFKY 660 Q9P1Z9 QLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKSFETLADQTEWQSSHLFKY 660 KIAA1529 FQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETL 720 Q9P1Z9 FQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETL 720 KIAA1529 AFHLEKVKDYLKNMKSRYECFHTLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQN 780 Q9P1Z9 AFHLEKVKDYLKNMKSRYECFHTLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQN 780 KIAA1529 LAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEEN 840 Q9P1Z9 LAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEEN 840 KIAA1529 DQEMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQG 900 Q9P1Z9 DQEMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQG 900 KIAA1529 EKKEESEEEDEKEEEEEEEKLEEEKEEKEAQEEQESLSVGEEEDKEEGLEEIYYEDMESF 960 Q9P1Z9 EKKEESEEEDEKEEEEEEEKLEEEKEEKEAQEEQESLSVGEEEDKEEGLEEIYYEDMESF 960 KIAA1529 TISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKQLFSE 1020 Q9P1Z9 TISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKQLFSE 1020 KIAA1529 GGNFSPKEINSLCSRLEKEAARIELVESVIMLNMEKLENEYLDQANDVINKFESKFHNLS 1080 Q9P1Z9 GGNFSPKEINSLCSRLEKEAARIELVESVIMLNMEKLENEYLDQANDVINKFESKFHNLS 1080 KIAA1529 VDLIFIEKIQRLLTNLQVKIKCQVAKSNSQTNGLNFSLQQLQNKIKTCQESRGEKTTVTT 1140 Q9P1Z9 VDLIFIEKIQRLLTNLQVKIKCQVAKSNSQTNGLNFSLQQLQNKIKTCQESRGEKTTVTT 1140 KIAA1529 EELLSFVQTWKEKLSQRIQYLNCSLDRVSMTELVFTNTILKDQEEDSDILTSSEALEEEA 1200 Q9P1Z9 EELLSFVQTWKEKLSQRIQYLNCSLDRVSMTELVFTNTILKDQEEDSDILTSSEALEEEA 1200 KIAA1529 KLDVVTPESFTQLSRVGKPLIEDPAVDVIRKLLQLPNTKWPTHHCDKDPSQTGFKRHRCQ 1260 Q9P1Z9 KLDVVTPESFTQLSRVGKPLIEDPAVDVIRKLLQLPNTKWPTHHCDKDPSQTGFKRHRCQ 1260 KIAA1529 PENSGKKAVPSASATSAGSLQTTHPPLSHSFTPHPKPNKMERKYRVLGDKPPPAAEDFKG 1320 Q9P1Z9 PENSGKKAVPSASATSAGSLQTTHPPLSHSFTPHPKPNKMERKYRVLGDKPPPAAEDFKG 1320 KIAA1529 IILTLLWESSENLLTVAEEFYRKEKRPVTRPDCMCDTFDQCAENISKKILEYQSQANKYH 1380 Q9P1Z9 IILTLLWESSENLLTVAEEFYRKEKRPVTRPDCMCDTFDQCAENISKKILEYQSQANKYH 1380 KIAA1529 NSCLIELRIQIRRFEELLPQVCWLVMENFKEHHWKKFFTSVKEIRGQFEEQQKRLEKRKD 1440 Q9P1Z9 NSCLIELRIQIRRFEELLPQVCWLVMENFKEHHWKKFFTSVKEIRGQFEEQQKRLEKRKD 1440 KIAA1529 KNAQKLHLNLGHPVHFQEMESLHLSEEERQEELDSMIRMNKEKLEECTRRNGQVFITNLA 1500 Q9P1Z9 KNAQKLHLNLGHPVHFQEMESLHLSEEERQEELDSMIRMNKEKLEECTRRNGQVFITNLA 1500 KIAA1529 TFTEKFLLQLDEVVTIDDVQVARMEPPKQKLSMLIRRKLAGLSLKEESEKPLIERGSRKW 1560 Q9P1Z9 TFTEKFLLQLDEVVTIDDVQVARMEPPKQKLSMLIRRKLAGLSLKEESEKPLIERGSRKW 1560 KIAA1529 PGIKPTEVTIQNKILLQPTSSISTTKTTLGHLAAVEARDAVYLKYLASFEEELKRIQDDC 1620 Q9P1Z9 PGIKPTEVTIQNKILLQPTSSISTTKTTLGHLAAVEARDAVYLKYLASFEEELKRIQDDC 1620 KIAA1529 TSQIKEAQRWKDSWKQSLHTIQGLYV Q9P1Z9 TSQIKEAQRWKDSWKQSLHTIQGLYV

More details

Wildtype Residue : T Mutant Position : 994 Mutant label : p.T994I Feature Name :UNIPROTKB_Q9P1Z9_VAR_SEQ_723_1646( 723- 1646 )
Q9P1Z9 UniProt:curator UNIPROTKB_Q9P1Z9_VARIANT_995_995 995 995 Proximity 100.00
KIAA1529 MWHGNHVQPGATHRPNQGLEMLQGLGIGMKAFHNFNYFLFFYNVLLGLGACLSRLLISCL 60 Q9P1Z9 MWHGNHVQPGATHRPNQGLEMLQGLGIGMKAFHNFNYFLFFYNVLLGLGACLSRLLISCL 60 KIAA1529 LGMWLIARIDRTIMQSGYEGADMGFSAWIGMLYMDHYHINPVLVSFCHILITNHREKKLQ 120 Q9P1Z9 LGMWLIARIDRTIMQSGYEGADMGFSAWIGMLYMDHYHINPVLVSFCHILITNHREKKLQ 120 KIAA1529 QSTKYWCLNQSAESLRICAMRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQP 180 Q9P1Z9 QSTKYWCLNQSAESLRICAMRGGENRPPARVQSSSEELELRHQSLDAFPGRRLPGRGIQP 180 KIAA1529 AAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVET 240 Q9P1Z9 AAKMSSVGKVTQVPNGKAYQQIFQAEVQLVHSLAATRKRAAERSVTLKSGRIPMMKKVET 240 KIAA1529 PEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIV 300 Q9P1Z9 PEGEVMSPRQQKWMHSLPNDWIMENPVLHREKERAKREKARESENTIAAREVRGLMDTIV 300 KIAA1529 PEKISTSTFQRQAEHKRKSYESALASFQEEIAQVGKEMEPLIVDTGGLFLKKLTESDEEM 360 Q9P1Z9 PEKISTSTFQRQAEHKRKSYESALASFQEEIAQVGKEMEPLIVDTGGLFLKKLTESDEEM 360 KIAA1529 NRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSV 420 Q9P1Z9 NRLFLKVENDTNLEDYTIQALLELWDKVAGRLLLRKQEIKELDEALHSLEFSRTDKLKSV 420 KIAA1529 LKKYAEVIEKTSYLMRPEVYRLINEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSR 480 Q9P1Z9 LKKYAEVIEKTSYLMRPEVYRLINEEAMVMNYALLGNRKALAQLFVNLMESTLQQELDSR 480 KIAA1529 HRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLC 540 Q9P1Z9 HRWQGLVDTWKALKKEALLQSFSEFMASESIHTPPAVTKELEVMLKTQNVLQQRRLKHLC 540 KIAA1529 TICDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKK 600 Q9P1Z9 TICDLLPPSYSKTQLTEWHSSLNSLNKELDTYHVDCMMRIRLLYEKTWQECLMHVQNCKK 600 KIAA1529 QLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKSFETLADQTEWQSSHLFKY 660 Q9P1Z9 QLLDWKAFTEEEAETLVNQFFFQMVGALQGKVEEDLELLDKSFETLADQTEWQSSHLFKY 660 KIAA1529 FQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETL 720 Q9P1Z9 FQEVVQLWEAHQSELLVQELELEKRMEQHRQKHSLESQVQEAHLDRLLDQLRQQSDKETL 720 KIAA1529 AFHLEKVKDYLKNMKSRYECFHTLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQN 780 Q9P1Z9 AFHLEKVKDYLKNMKSRYECFHTLLTKEVMEYPAIMLKELNSYSSALSQYFFVREIFEQN 780 KIAA1529 LAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEEN 840 Q9P1Z9 LAGEVIFKFRQPEAHEKPSQKRVKKLRKKQGSKEDMTRSEESISSGTSTARSVEEVEEEN 840 KIAA1529 DQEMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQG 900 Q9P1Z9 DQEMESFITEEVLGQQKKSPLHAKMDESKEGSIQGLEEMQVEREGSLNPSLNEENVKGQG 900 KIAA1529 EKKEESEEEDEKEEEEEEEKLEEEKEEKEAQEEQESLSVGEEEDKEEGLEEIYYEDMESF 960 Q9P1Z9 EKKEESEEEDEKEEEEEEEKLEEEKEEKEAQEEQESLSVGEEEDKEEGLEEIYYEDMESF 960 KIAA1529 TISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKQLFSE 1020 Q9P1Z9 TISSGNTYFVFVPLEEEHCRKSHSTFSAMFINDTSSAKFIEQVTIPSRLILEIKKQLFSE 1020 KIAA1529 GGNFSPKEINSLCSRLEKEAARIELVESVIMLNMEKLENEYLDQANDVINKFESKFHNLS 1080 Q9P1Z9 GGNFSPKEINSLCSRLEKEAARIELVESVIMLNMEKLENEYLDQANDVINKFESKFHNLS 1080 KIAA1529 VDLIFIEKIQRLLTNLQVKIKCQVAKSNSQTNGLNFSLQQLQNKIKTCQESRGEKTTVTT 1140 Q9P1Z9 VDLIFIEKIQRLLTNLQVKIKCQVAKSNSQTNGLNFSLQQLQNKIKTCQESRGEKTTVTT 1140 KIAA1529 EELLSFVQTWKEKLSQRIQYLNCSLDRVSMTELVFTNTILKDQEEDSDILTSSEALEEEA 1200 Q9P1Z9 EELLSFVQTWKEKLSQRIQYLNCSLDRVSMTELVFTNTILKDQEEDSDILTSSEALEEEA 1200 KIAA1529 KLDVVTPESFTQLSRVGKPLIEDPAVDVIRKLLQLPNTKWPTHHCDKDPSQTGFKRHRCQ 1260 Q9P1Z9 KLDVVTPESFTQLSRVGKPLIEDPAVDVIRKLLQLPNTKWPTHHCDKDPSQTGFKRHRCQ 1260 KIAA1529 PENSGKKAVPSASATSAGSLQTTHPPLSHSFTPHPKPNKMERKYRVLGDKPPPAAEDFKG 1320 Q9P1Z9 PENSGKKAVPSASATSAGSLQTTHPPLSHSFTPHPKPNKMERKYRVLGDKPPPAAEDFKG 1320 KIAA1529 IILTLLWESSENLLTVAEEFYRKEKRPVTRPDCMCDTFDQCAENISKKILEYQSQANKYH 1380 Q9P1Z9 IILTLLWESSENLLTVAEEFYRKEKRPVTRPDCMCDTFDQCAENISKKILEYQSQANKYH 1380 KIAA1529 NSCLIELRIQIRRFEELLPQVCWLVMENFKEHHWKKFFTSVKEIRGQFEEQQKRLEKRKD 1440 Q9P1Z9 NSCLIELRIQIRRFEELLPQVCWLVMENFKEHHWKKFFTSVKEIRGQFEEQQKRLEKRKD 1440 KIAA1529 KNAQKLHLNLGHPVHFQEMESLHLSEEERQEELDSMIRMNKEKLEECTRRNGQVFITNLA 1500 Q9P1Z9 KNAQKLHLNLGHPVHFQEMESLHLSEEERQEELDSMIRMNKEKLEECTRRNGQVFITNLA 1500 KIAA1529 TFTEKFLLQLDEVVTIDDVQVARMEPPKQKLSMLIRRKLAGLSLKEESEKPLIERGSRKW 1560 Q9P1Z9 TFTEKFLLQLDEVVTIDDVQVARMEPPKQKLSMLIRRKLAGLSLKEESEKPLIERGSRKW 1560 KIAA1529 PGIKPTEVTIQNKILLQPTSSISTTKTTLGHLAAVEARDAVYLKYLASFEEELKRIQDDC 1620 Q9P1Z9 PGIKPTEVTIQNKILLQPTSSISTTKTTLGHLAAVEARDAVYLKYLASFEEELKRIQDDC 1620 KIAA1529 TSQIKEAQRWKDSWKQSLHTIQGLYV Q9P1Z9 TSQIKEAQRWKDSWKQSLHTIQGLYV

More details

Wildtype Residue : T Mutant Position : 994 Mutant label : p.T994I Feature Name :UNIPROTKB_Q9P1Z9_VARIANT_995_995( 995- 995 )

References

This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed