UniProtKB/Swiss-Prot P03951: Variant p.Cys339Phe

Coagulation factor XI
Gene: F11
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Variant information Variant position:

339 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 Cysteine (C) to Phenylalanine (F) at position 339 (C339F, p.Cys339Phe). 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 aromatic (F) 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
Other resources:

Links to websites of interest for the variant.

Variant rs5967 [ dbSNP | Ensembl ]

Sequence information Variant position:

339 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

625 The length of the canonical sequence.
Location on the sequence:

KLCTNAVRCQFFTYTPAQAS C NEGKGKCYLKLSSNGSPTKI 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                         KLCTNAVRCQFFTYTPAQASCNE--GKGKCYLKLSSNGSPTKI

Mouse                         KTCTNNARCQFFTYYPSHRLCNERNRRGRCYLKLSSNGSPT

Bovine                        KTCTNSIRCQFFTYSPSQESCNG--GKGKCYLKLSANGSPT

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	19 – 387	Coagulation factor XIa heavy chain
Domain	291 – 374	Apple 4
Disulfide bond	291 – 374
Disulfide bond	317 – 346
Disulfide bond	339 – 339	Interchain
Mutagenesis	344 – 344	G -> C. Abolishes dimerization.
Mutagenesis	347 – 347	Y -> A. Reduces dimerization.
Turn	337 – 339

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PHE-339; Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS LEU-66; ARG-244; PHE-308 AND PHE-339; Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.
Zivelin A.; Bauduer F.; Ducout L.; Peretz H.; Rosenberg N.; Yatuv R.; Seligsohn U.;
Blood 99:2448-2454(2002)
Cited for: VARIANTS FA11D ARG-56; TYR-255 AND HIS-511; VARIANT PHE-339; CHARACTERIZATION OF VARIANTS FA11D ARG-56; TYR-255 AND HIS-511;

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.