UniProtKB/Swiss-Prot P21802: Variant p.Ala315Ser

Fibroblast growth factor receptor 2
Gene: FGFR2
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Variant information Variant position:

315 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 Alanine (A) to Serine (S) at position 315 (A315S, p.Ala315Ser). 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 small size and hydrophobic (A) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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 a non-syndromic craniosynostosis patient with abnormal intrauterine history; confers predisposition to craniosynostosis. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121918504 [ dbSNP | Ensembl ]

Sequence information Variant position:

315 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:

EKNGSKYGPDGLPYLKVLKA A GVNTTDKEIEVLYIRNVTFE 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                         EKNGSKYGPDGLPYLKVLKAAGVNTTDKEIEVLYIRNVTFE

Mouse                         EKNGSKNGPDGLPYLKVLKAAGVNTTDKEIEVLYIRNVTFE

Chicken                       ERNGSKYGPDGLPYLQVLKAAGVNTTDKEIEVLYIRNVTFE

Xenopus laevis                EKNGSRFGVDGLPYFKVLKAAGVNVTDEEIEVLYVRNVSFE

Zebrafish                     TKNGSCCGPDGLPYVRVLKTAGVNTTDKEIEVLYLPNVTFE

Drosophila                    LKNAS---LDGLKSVEI-QNLNFTVTNDSV-VLTLRNVTFD

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
Topological domain	22 – 377	Extracellular
Domain	256 – 358	Ig-like C2-type 3
Glycosylation	297 – 297	N-linked (GlcNAc...) asparagine
Glycosylation	318 – 318	N-linked (GlcNAc...) asparagine
Glycosylation	331 – 331	N-linked (GlcNAc...) asparagine
Disulfide bond	278 – 342
Alternative sequence	250 – 361	Missing. In isoform 17.
Alternative sequence	255 – 821	Missing. In isoform 8.
Alternative sequence	313 – 313	K -> KVTK. In isoform 10.
Alternative sequence	314 – 429	Missing. In isoform 9.
Alternative sequence	314 – 330	AAGVNTTDKEIEVLYIR -> HSGINSSNAEVLALF. In isoform 3, isoform 4, isoform 11, isoform 12, isoform 13 and isoform 16.
Beta strand	315 – 319

Literature citations
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
Johnson D.; Wall S.A.; Mann S.; Wilkie A.O.M.;
Eur. J. Hum. Genet. 8:571-577(2000)
Cited for: VARIANT SER-315; Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Kan S.-H.; Elanko N.; Johnson D.; Cornejo-Roldan L.R.; Cook J.; Reich E.W.; Tomkins S.; Verloes A.; Twigg S.R.F.; Rannan-Eliya S.; McDonald-McGinn D.M.; Zackai E.H.; Wall S.A.; Muenke M.; Wilkie A.O.M.;
Am. J. Hum. Genet. 70:472-486(2002)
Cited for: VARIANTS CS CYS-105; PRO-267; VAL-276; CYS-281; PRO-289; ARG-338; HIS-340; PHE-342; TRP-342; CYS-347; CYS-354; HIS-549 AND GLY-678; VARIANTS PS PHE-172; 252-SER-PRO-253 DELINS PHE-SER; CYS-290; CYS-340; PRO-341; ARG-342; SER-342; CYS-375; GLY-565; ARG-641 AND GLU-663; VARIANTS APRS TRP-252 AND ARG-253; VARIANTS CS/PS PHE-278 AND TYR-342; VARIANT CRANIOSYNOSTOSIS ASN-659; VARIANTS THR-186 AND SER-315;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.