UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1622

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 Aspartate (D) to Alanine (A) at position 1622 (D1622A, p.Asp1622Ala).

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 medium size and acidic (D) to small size and hydrophobic (A)

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

Variant description:

Originally found in DA2B3 patients.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1446303362 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1622

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

Protein sequence length:

1940

The length of the canonical sequence.

Location on the sequence:

LDAEVRSRNEAIRLKKKMEG D LNEIEIQLSHANRQAAETLK

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 – 1940	Myosin-3
Coiled coil	840 – 1933

Literature citations

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Toydemir R.M.; Rutherford A.; Whitby F.G.; Jorde L.B.; Carey J.C.; Bamshad M.J.;
Nat. Genet. 38:561-565(2006)
Cited for: INVOLVEMENT IN DA2A; INVOLVEMENT IN DA2B3; VARIANTS DA2A ILE-178; GLY-498; SER-583; CYS-672; HIS-672 AND ASP-825; VARIANTS DA2B3 ILE-178; PHE-261; CYS-292; LYS-375; TYR-517; VAL-769 AND GLU-838; LEU-841 DEL; VARIANTS ALA-1622 AND VAL-1637;

Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3.
Chong J.X.; Burrage L.C.; Beck A.E.; Marvin C.T.; McMillin M.J.; Shively K.M.; Harrell T.M.; Buckingham K.J.; Bacino C.A.; Jain M.; Alanay Y.; Berry S.A.; Carey J.C.; Gibbs R.A.; Lee B.H.; Krakow D.; Shendure J.; Nickerson D.A.; Bamshad M.J.;
Am. J. Hum. Genet. 96:841-849(2015)
Cited for: INVOLVEMENT IN CPSFS1A; TISSUE SPECIFICITY; VARIANTS CPSFS1A SER-243 DEL; ASN-1072 INS AND PRO-1075; CLASSIFICATION OF VARIANTS ALA-1622 AND VAL-1637;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11055: Variant p.Asp1622Ala