UniProtKB/SwissProt variant VAR

Variant information

Variant position:

119

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

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Cysteine (C) to Arginine (R) at position 119 (C119R, p.Cys119Arg).

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

Involvement in disease:

Hemophilia B (HEMB) [MIM:306900]: An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. {ECO:0000269|PubMed:10094553, ECO:0000269|PubMed:10698280, ECO:0000269|PubMed:11122099, ECO:0000269|PubMed:12588353, ECO:0000269|PubMed:12604421, ECO:0000269|PubMed:1346975, ECO:0000269|PubMed:1615485, ECO:0000269|PubMed:1902289, ECO:0000269|PubMed:1958666, ECO:0000269|PubMed:2162822, ECO:0000269|PubMed:2339358, ECO:0000269|PubMed:2372509, ECO:0000269|PubMed:2472424, ECO:0000269|PubMed:25251685, ECO:0000269|PubMed:25470321, ECO:0000269|PubMed:2592373, ECO:0000269|PubMed:2713493, ECO:0000269|PubMed:2714791, ECO:0000269|PubMed:2738071, ECO:0000269|PubMed:2753873, ECO:0000269|PubMed:2773937, ECO:0000269|PubMed:2775660, ECO:0000269|PubMed:3009023, ECO:0000269|PubMed:3243764, ECO:0000269|PubMed:3401602, ECO:0000269|PubMed:3790720, ECO:0000269|PubMed:6603618, ECO:0000269|PubMed:7981722, ECO:0000269|PubMed:8076946, ECO:0000269|PubMed:8199596, ECO:0000269|PubMed:8257988, ECO:0000269|PubMed:8295821, ECO:0000269|PubMed:8680410, ECO:0000269|PubMed:9169594, ECO:0000269|PubMed:9222764, ECO:0000269|PubMed:9452115, ECO:0000269|PubMed:9590153, ECO:0000269|PubMed:9600455}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In HEMB; Iran.

Any additional useful information about the variant.

Sequence information

Variant position:

119

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

Protein sequence length:

461

The length of the canonical sequence.

Location on the sequence:

SNPCLNGGSCKDDINSYECW C PFGFEGKNCELDVTCNIKNG

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                         SNPCLNGGSCKDDINSYECWCPFGFEGKNCELDVTCNIKNG

                              SNPCLNDGVCKDDINSYECWCRAGFEGKNCELDVTCNIKNG

Chimpanzee                    SNPCLNGGSCKDDINSYECWCPFGFEGKNCELDVTCNIKNG

Mouse                         SNPCLNGGICKDDISSYECWCQVGFEGRNCELDATCNIKNG

Rat                           SNPCLNGGICKDDINSYECWCQAGFEGRNCELDATCSIKNG

Bovine                        SNPCLNGGMCKDDINSYECWCQAGFEGTNCELDATCSIKNG

Cat                           SNPCLNGGICKDDINSYECWCQTGFEGKNCELDVTCNIKNG

Chicken                       SNPCKNGAVCKDGVSSYECMCPPGYGGRNCEIDSTCATKNG

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	47 – 461	Coagulation factor IX
Chain	47 – 191	Coagulation factor IXa light chain
Domain	93 – 129	EGF-like 1; calcium-binding
Metal binding	110 – 110	Calcium 7
Metal binding	111 – 111	Calcium 7; via carbonyl oxygen
Modified residue	110 – 110	(3R)-3-hydroxyaspartate
Modified residue	114 – 114	Phosphoserine
Glycosylation	99 – 99	O-linked (Glc...) serine
Glycosylation	107 – 107	O-linked (Fuc...) serine
Disulfide bond	119 – 128
Alternative sequence	93 – 130	Missing. In isoform 2.

Literature citations

Five novel factor IX mutations in unrelated hemophilia B patients.
David D.; Moreira I.; Morais S.; de Deus G.;
Hum. Mutat. Suppl. 1:S301-S303(1998)
Cited for: VARIANTS HEMB ARG-119 AND THR-454;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00740: Variant p.Cys119Arg