UniProtKB/SwissProt variant VAR

Variant information

Variant position:

381

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 Tyrosine (Y) to Aspartate (D) at position 381 (Y381D, p.Tyr381Asp).

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 (Y) to medium size and acidic (D)

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 BBDS.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs387906678 [ dbSNP | Ensembl ]

Sequence information

Variant position:

381

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

Protein sequence length:

821

The length of the canonical sequence.

Location on the sequence:

PAPGREKEITASPDYLEIAI Y CIGVFLIACMVVTVILCRMK

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                         PAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMK

Mouse                         PAPVREKEITASPDYLEIAIYCIGVFLIACMVVTVIFCRMK

Chicken                       PAPEKEKEFPTSPDYLEIAIYCIGVFLIACMVLTVILCRMK

Xenopus laevis                PAPVNPLEDNPVPYYMEIGIYSTGIFIIFCMVVVCVVCRMR

Zebrafish                     PAETNPIETDYPPDYVEIAIYCIGVFLIACMVVIVVVCRMR

Drosophila                    PLEIYALLHAHPLGFTLAAITIVALFLLGSAFITFMLRRLR

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	22 – 821	Fibroblast growth factor receptor 2
Transmembrane	378 – 398	Helical
Alternative sequence	255 – 821	Missing. In isoform 8.
Alternative sequence	314 – 429	Missing. In isoform 9.
Alternative sequence	361 – 361	P -> PKQQ. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
Alternative sequence	366 – 821	Missing. In isoform 13.

Literature citations

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
Merrill A.E.; Sarukhanov A.; Krejci P.; Idoni B.; Camacho N.; Estrada K.D.; Lyons K.M.; Deixler H.; Robinson H.; Chitayat D.; Curry C.J.; Lachman R.S.; Wilcox W.R.; Krakow D.;
Am. J. Hum. Genet. 90:550-557(2012)
Cited for: VARIANTS BBDS ASP-381 AND ARG-391; CHARACTERIZATION OF VARIANT BBDS ARG-391;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21802: Variant p.Tyr381Asp