UniProtKB/SwissProt variant VAR

Variant information

Variant position:

227

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 Valine (V) to Phenylalanine (F) at position 227 (V227F, p.Val227Phe).

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 hydrophobic (V) to large size and aromatic (F)

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; Milano.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs137852242 [ dbSNP | Ensembl ]

Sequence information

Variant position:

227

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:

AETILDNITQSTQSFNDFTR V VGGEDAKPGQFPWQVVLNGK

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                         AETILDNITQSTQS-------------FNDFTRVVGGEDAKPGQFPWQV-VLNGK

                              VEKILDNVTQP----------------LNDFTRVVGGKDAK

Chimpanzee                    AETILDNITQSTQS-------------FNDFTRVVGGEDAK

Mouse                         DGAILNNVTESSES-------------LNDFTRVVGGENAK

Rat                           NSTILDNLTENSEP-------------INDFTRVVGGENAK

Bovine                        AEIIWDNVTQSNQS-------------FDEFSRVVGGEDAE

Cat                           AEKNVDNVTQP----------------LNDLTRIVGGKTAK

Chicken                       DEAL--DITEPPPPPTTSAAPAKIVPITKNDTRVVGGYDSV

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
Site	226 – 227	Cleavage; by factor XIa
Glycosylation	213 – 213	N-linked (GlcNAc...) asparagine
Glycosylation	215 – 215	O-linked (GalNAc...) threonine
Glycosylation	225 – 225	O-linked (GalNAc...) threonine
Disulfide bond	178 – 335	Interchain (between light and heavy chains)

Literature citations

Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX.
Bertina R.M.; van der Linden I.K.; Mannucci P.M.; Reinalda-Poot H.H.; Cupers R.; Poort S.R.; Reitsma P.H.;
J. Biol. Chem. 265:10876-10883(1990)
Cited for: VARIANTS HEMB GLN-226; TRP-226; PHE-227 AND THR-414;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00740: Variant p.Val227Phe