UniProtKB/SwissProt variant VAR

Variant information

Variant position:

342

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 Threonine (T) to Methionine (M) at position 342 (T342M, p.Thr342Met).

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 (T) to medium size and hydrophobic (M)

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 HEMB; moderate.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs137852254 [ dbSNP | Ensembl ]

Sequence information

Variant position:

342

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:

DEPLVLNSYVTPICIADKEY T NIFLKFGSGYVSGWGRVFHK

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                         DEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHK

                              DEPLTLNSYVTPICIADREYSNIFLKFGSGYVSGWGRVFNK

Chimpanzee                    DEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHK

Mouse                         DKPLILNSYVTPICVANREYTNIFLKFGSGYVSGWGKVFNK

Rat                           DKPLILNSYVTPICVANKEYTNIFLKFGSGYVSGWGKVFNK

Bovine                        DEPLELNSYVTPICIADRDYTNIFLKFGYGYVSGWGKVFNR

Cat                           DEPLTLNSYVTPICVADREYTNTFLKFGYGYVSGWGKVFNK

Chicken                       DQPLTFNSYVTPICIGSRDFTNNLLSNGPGTVSGWGSMLYR

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	227 – 461	Coagulation factor IXa heavy chain
Domain	227 – 459	Peptidase S1
Helix	339 – 347

Literature citations

Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.
Koeberl D.D.; Bottema C.D.; Buerstedde J.-M.; Sommer S.S.;
Am. J. Hum. Genet. 45:448-457(1989)
Cited for: VARIANTS HEMB GLN-75; ASP-79; TRP-268; THR-279; SER-306; MET-342; ARG-357 AND ARG-453; VARIANT PHE-7;

Mutations associated with hemophilia B in Turkish patients.
Caglayan S.H.; Goekmen Y.; Aktuglu G.; Guergey A.; Sommer S.S.;
Hum. Mutat. 10:76-79(1997)
Cited for: VARIANTS HEMB LYS-113; MET-342; ARG-413 AND VAL-424;

Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene.
Espinos C.; Casana P.; Haya S.; Cid A.R.; Aznar J.A.;
Haematologica 88:235-236(2003)
Cited for: VARIANTS HEMB TRP-43; ARG-84; ARG-125; VAL-125; PHE-170; ARG-302; MET-342; LEU-344; LEU-395; THR-414; TYR-435; GLU-442 AND TRP-449;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00740: Variant p.Thr342Met