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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P18206: Variant p.Arg975Trp

Vinculin
Gene: VCL
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Variant information Variant position: help 975
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Tryptophan (W) at position 975 (R975W, p.Arg975Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help In CMD1W; significantly alters metavinculin-mediated cross-linking of actin filaments.
Other resources: help


Sequence information Variant position: help 975
Protein sequence length: help 1134
Location on the sequence: help LMPSNQPVNQPILAAAQSLH R EATKWSSKGNDIIAAAKRMA
Residue conservation: help 
Human                         LMPSNQPVNQPILAAAQSLHREATKWSSKGNDIIAAAKRMA

Mouse                         ------------------------KWSSKGNDIIAAAKRMA

Rat                           ------------------------KWSSKGNDIIAAAKRMA

Pig                           LMPSSQPVNQPILAAAQSLHREATKWSSKGNDIIAAAKRMA

Chicken                       LMPTNQPVNQPILAAAQSLHREATKWSSKGNDIIAAAKRMA

Caenorhabditis elegans        ------------------------QWSSQENDIVAAAKRMA

Drosophila                    ------------------------QWSSKDNEIIAAAKRMA

Slime mold                    -------------------------------------QQMA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1134 Vinculin
Region 879 – 1134 C-terminal tail
Alternative sequence 296 – 1134 Missing. In isoform 3.
Alternative sequence 916 – 983 Missing. In isoform 1.
Helix 964 – 977



Literature citations
Metavinculin mutations alter actin interaction in dilated cardiomyopathy.
Olson T.M.; Illenberger S.; Kishimoto N.Y.; Huttelmaier S.; Keating M.T.; Jockusch B.M.;
Circulation 105:431-437(2002)
Cited for: VARIANTS CMD1W LEU-954 DEL AND TRP-975; CHARACTERIZATION OF VARIANT CMD1W TRP-975; Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy.
Vasile V.C.; Will M.L.; Ommen S.R.; Edwards W.D.; Olson T.M.; Ackerman M.J.;
Mol. Genet. Metab. 87:169-174(2006)
Cited for: VARIANT CMD1W TRP-975; VARIANTS VAL-934 AND ALA-943;
Disclaimer: 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.