UniProtKB/SwissProt variant VAR

Variant information

Variant position:

370

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 Glycine (G) to Cysteine (C) at position 370 (G370C, p.Gly370Cys).

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 glycine (G) to medium size and polar (C)

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 KERSEB, BLC, keratinocytic non-epidermolytic nevus and TD1.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121913479 [ dbSNP | Ensembl ]

Sequence information

Variant position:

370

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

Protein sequence length:

806

The length of the canonical sequence.

Location on the sequence:

HSAWLVVLPAEEELVEADEA G SVYAGILSYGVGFFLFILVV

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                         HSAWLVVL-PAEEELVEAD-EAGSVYAGILSYGVGFFLFILVV

Mouse                         HSAWLVVL-PAEEELMETD-EAGSVYAGVLSYGVVFFLFIL

Chicken                       HSAWLTVL-PAEE-LMEMD-DSGSVYAGILSYGTGLVLFIL

Xenopus laevis                ASFWLHIYKPAPAEPVEKALTTSSSSITVLIVVTSTIVFIL

Zebrafish                     HSAWLTVL-PAVE--MERE-DD---YADILIYVTSCVLFIL

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	23 – 806	Fibroblast growth factor receptor 3
Topological domain	23 – 375	Extracellular
Alternative sequence	311 – 422	Missing. In isoform 3.
Beta strand	369 – 372

Literature citations

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
Rousseau F.; el Ghouzzi V.; Delezoide A.-L.; Legeai-Mallet L.; le Merrer M.; Munnich A.; Bonaventure J.;
Hum. Mol. Genet. 5:509-512(1996)
Cited for: VARIANTS TD1 CYS-248; CYS-249; CYS-370 AND CYS-373;

G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
Katsumata N.; Kuno T.; Miyazaki S.; Mikami S.; Nagashima-Miyokawa A.; Nimura A.; Horikawa R.; Tanaka T.;
Endocr. J. 45:S171-S174(1998)
Cited for: VARIANT TD1 CYS-370;

Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
Cappellen D.; De Oliveira C.; Ricol D.; Gil Diez de Medina S.; Bourdin J.; Sastre-Garau X.; Chopin D.; Thiery J.P.; Radvanyi F.;
Nat. Genet. 23:18-20(1999)
Cited for: VARIANTS BLC CYS-248; CYS-249; CYS-370 AND GLU-650; VARIANTS CERCA CYS-248; CYS-249; CYS-370 AND GLU-650;

Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans.
Logie A.; Dunois-Larde C.; Rosty C.; Levrel O.; Blanche M.; Ribeiro A.; Gasc J.-M.; Jorcano J.; Werner S.; Sastre-Garau X.; Thiery J.P.; Radvanyi F.;
Hum. Mol. Genet. 14:1153-1160(2005)
Cited for: VARIANTS KERSEB CYS-248; CYS-249; CYS-370; CYS-371; CYS-373; GLU-650 AND MET-650;

Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.
Hafner C.; van Oers J.M.M.; Vogt T.; Landthaler M.; Stoehr R.; Blaszyk H.; Hofstaedter F.; Zwarthoff E.C.; Hartmann A.;
J. Clin. Invest. 116:2201-2207(2006)
Cited for: VARIANTS KNEN CYS-248; CYS-370 AND ARG-380;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22607: Variant p.Gly370Cys