UniProtKB/SwissProt variant VAR

Variant information

Variant position:

656

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LB/B

The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Tryptophan (W) to Cysteine (C) at position 656 (W656C, p.Trp656Cys).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:

Change from large size and aromatic (W) to medium size and polar (C)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-2

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Other resources:

Links to websites of interest for the variant.

Variant rs138172035 [ dbSNP | Ensembl ]

Sequence information

Variant position:

656

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

1914

The length of the canonical sequence.

Location on the sequence:

DGSQVTMTVQVSGNPPPEVI W LHNGNEIQESEDFHFEQRGT

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.

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
Chain	1 – 1914	Myosin light chain kinase, smooth muscle
Chain	1 – 1910	Myosin light chain kinase, smooth muscle, deglutamylated form
Domain	620 – 711	Ig-like C2-type 5
Alternative sequence	1 – 1760	Missing. In isoform 6 and isoform 8.
Alternative sequence	1 – 1200	Missing. In isoform 7.
Alternative sequence	1 – 922	Missing. In isoform 5 and isoform 9.

Literature citations

Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-261; ALA-276; HIS-378; VAL-405; SER-443; GLY-607; ALA-652; CYS-656; MET-692; THR-701; MET-709; VAL-1527 AND LEU-1588;

Mutations in myosin light chain kinase cause familial aortic dissections.
Wang L.; Guo D.C.; Cao J.; Gong L.; Kamm K.E.; Regalado E.; Li L.; Shete S.; He W.Q.; Zhu M.S.; Offermanns S.; Gilchrist D.; Elefteriades J.; Stull J.T.; Milewicz D.M.;
Am. J. Hum. Genet. 87:701-707(2010)
Cited for: VARIANTS AAT7 MET-1213; THR-1754 AND PRO-1759; VARIANTS VAL-128; HIS-133; ARG-160; CYS-656; ALA-1085 AND LYS-1399; CHARACTERIZATION OF VARIANTS AAT7 THR-1754 AND PRO-1759;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15746: Variant p.Trp656Cys