UniProtKB/SwissProt variant VAR

Variant information

Variant position:

294

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

Type of variant:

LP/P [Disclaimer]

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 Cysteine (C) to Arginine (R) at position 294 (C294R, p.Cys294Arg).

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 polar (C) to large size and basic (R)

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

BLOSUM score:

-3

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:

In EDSPD2.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs886040975 [ dbSNP | Ensembl ]

Sequence information

Variant position:

294

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

Protein sequence length:

688

The length of the canonical sequence.

Location on the sequence:

TDLTGQKKGWKLRYHGDPMP C PKEDTPNSVWEPAKAKYVFR

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                         TDLTGQKKGWKLRYHGDPMPCPKEDTPNSVWEPAKAKYVFR

Rat                           TDLTGQNKGWKLRYHGDPIPCPKEISANSIWEPEKAKYVFK

Pig                           TDETEQKKGWKFRYHGDPIPCPKEVTANSFWEPEKAKYVFK

Bovine                        TDGSEQRKGWKFRYHGDPIPCPKEVTANSFWEPERAKYVFR

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	16 – 688	Complement C1s subcomponent
Chain	16 – 437	Complement C1s subcomponent heavy chain
Domain	292 – 356	Sushi 1
Disulfide bond	294 – 341

Literature citations

Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.
Kapferer-Seebacher I.; Pepin M.; Werner R.; Aitman T.J.; Nordgren A.; Stoiber H.; Thielens N.; Gaboriaud C.; Amberger A.; Schossig A.; Gruber R.; Giunta C.; Bamshad M.; Bjoerck E.; Chen C.; Chitayat D.; Dorschner M.; Schmitt-Egenolf M.; Hale C.J.; Hanna D.; Hennies H.C.; Heiss-Kisielewsky I.; Lindstrand A.; Lundberg P.; Mitchell A.L.; Nickerson D.A.; Reinstein E.; Rohrbach M.; Romani N.; Schmuth M.; Silver R.; Taylan F.; Vandersteen A.; Vandrovcova J.; Weerakkody R.; Yang M.; Pope F.M.; Byers P.H.; Zschocke J.;
Am. J. Hum. Genet. 99:1005-1014(2016)
Cited for: INVOLVEMENT IN EDSPD2; VARIANTS EDSPD2 ARG-294 AND VAL-316 DEL;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P09871: Variant p.Cys294Arg