This tab shows an overview of the mutation data [more details]
Gene Name:
MYLPF
Mutation Id:
COSM344431
AA Mutation:
p.E122K ( Substitution - Missense )
CDS Mutation:
c.364G>A ( Substitution )
GRCh37:
Ensembl Contig View16:30388977..30388987
COSMIC Genome Browser:
COSMIC JBrowse 16:30388977..30388987
CDD:
NP_037424.2
Homologene:
22728, click hereto look at the multiple sequence alignment.
Ever confirmed somatic:
No
This tab displays the distribution of mutated samples and tissue types. [more details]
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 Sample Source
This tab displays a table of protein features [more details]
View Identifier Source Feature Start End Status Score
Q96A32 G3DSA:1.10.238.10 G3DSA:1.10.238.10 94 160 Overlap 100.00
MYLPF MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 Q96A32 MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 MYLPF NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 Q96A32 NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 MYLPF EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE Q96A32 EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE

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Wildtype Residue : E Mutant Position : 122 Mutant label : p.E122K Feature Name :G3DSA:1.10.238.10( 94- 160 )
Q96A32 EF_HAND_2 EF_HAND_2 95 130 Overlap 100.00
MYLPF MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 Q96A32 MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 MYLPF NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 Q96A32 NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 MYLPF EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE Q96A32 EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE

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Wildtype Residue : E Mutant Position : 122 Mutant label : p.E122K Feature Name :EF_HAND_2( 95- 130 )
Q96A32 PTHR23049:SF10 PTHR23049:SF10 1 169 Overlap 100.00
MYLPF MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 Q96A32 MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 MYLPF NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 Q96A32 NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 MYLPF EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE Q96A32 EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE

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Wildtype Residue : E Mutant Position : 122 Mutant label : p.E122K Feature Name :PTHR23049:SF10( 1- 169 )
Q96A32 PTHR23049 PTHR23049 1 169 Overlap 100.00
MYLPF MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 Q96A32 MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 MYLPF NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 Q96A32 NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 MYLPF EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE Q96A32 EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE

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Wildtype Residue : E Mutant Position : 122 Mutant label : p.E122K Feature Name :PTHR23049( 1- 169 )
Q96A32 EFh EFh 99 127 Overlap 100.00
MYLPF MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 Q96A32 MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 MYLPF NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 Q96A32 NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 MYLPF EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE Q96A32 EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE

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Wildtype Residue : E Mutant Position : 122 Mutant label : p.E122K Feature Name :EFh( 99- 127 )
Q96A32 SSF47473 SSF47473 22 163 Overlap 100.00
MYLPF MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 Q96A32 MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 MYLPF NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 Q96A32 NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 MYLPF EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE Q96A32 EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE

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Wildtype Residue : E Mutant Position : 122 Mutant label : p.E122K Feature Name :SSF47473( 22- 163 )
Q96A32 UniProt:P02608 Myosin regulatory light chain 2, skeletal muscle isoform 2 169 Overlap 100.00
MYLPF MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 Q96A32 MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 MYLPF NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 Q96A32 NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 MYLPF EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE Q96A32 EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE

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Wildtype Residue : E Mutant Position : 122 Mutant label : p.E122K Feature Name :Myosin regulatory light chain 2, skeletal muscle isoform( 2- 169 )
Q96A32 UniProt:curator EF-hand 2 95 130 Overlap 100.00
MYLPF MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 Q96A32 MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRL 60 MYLPF NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 Q96A32 NVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFL 120 MYLPF EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE Q96A32 EELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE

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Wildtype Residue : E Mutant Position : 122 Mutant label : p.E122K Feature Name :EF-hand 2( 95- 130 )
This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed