Variant position: 277 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1134 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human AWAS-KDTEAMKRALASIDSK LNQAKGWLRD-----PSASPGDAGEQ
Mouse AWAS-KDTEAMKRALASIDSK LNQAKGWLRD-----PNASP
Rat AWAS-KDTEAMKRALASIDSK LNQAKGWLRD-----PNASP
Pig AWASKKDTEAMKRALASIDSK LNQAKGWLRD-----PTASP
Chicken AWAS-KDTEAMKRALALIDSK MNQAKGWLRD-----PNAPP
Caenorhabditis elegans EWDA-DNVTVMRKALSAAKSL LTAALDWLAD-----PHARS
Drosophila TSEL-DNLTVLKKLSNAISNK MEQANEWLSN-----PYALR
Slime mold TKFV-DLAFKWKPVRTMAEDE VTRASAVLIDNLRTLPKSIE
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 1134 Vinculin
259 – 369 1
1 – 835 N-terminal globular head
259 – 589 3 X 112 AA tandem repeats
260 – 260 Phosphoserine
272 – 272 Phosphoserine
275 – 275 Phosphoserine
288 – 288 Phosphoserine
290 – 290 Phosphoserine
262 – 295 DTEAMKRALASIDSKLNQAKGWLRDPSASPGDAG -> VRVLSGEISKIPNSPWLGVLIGTCLILYLVIFVA. In isoform 3.
277 – 284
A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy.
Vasile V.C.; Ommen S.R.; Edwards W.D.; Ackerman M.J.;
Biochem. Biophys. Res. Commun. 345:998-1003(2006)
Cited for: VARIANT CMH15 MET-277;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.