UniProtKB/SwissProt variant VAR

Variant information

Variant position:

97

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 Cysteine (C) to Serine (S) at position 97 (C97S, p.Cys97Ser).

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 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 HEMB.

Any additional useful information about the variant.

Sequence information

Variant position:

97

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:

VFENTERTTEFWKQYVDGDQ C ESNPCLNGGSCKDDINSYEC

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                         VFENTERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYEC

                              VFENTEKTTEFWKQYVDGDQCESNPCLNDGVCKDDINSYEC

Chimpanzee                    VFENTERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYEC

Mouse                         VFENTEKTTEFWKQYVDGDQCESNPCLNGGICKDDISSYEC

Rat                           VFENTEKTTEFWKQYVDGDQCESNPCLNGGICKDDINSYEC

Bovine                        VFENTEKTTEFWKQYVDGDQCESNPCLNGGMCKDDINSYEC

Cat                           VFENTEKTTEFWKQYVDGDQCESNPCLNGGICKDDINSYEC

Chicken                       VFENTEKTMEFWKIYIDGDQCNSNPCKNGAVCKDGVSSYEC

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	82 – 82	Calcium 6; via 4-carboxyglutamate
Metal binding	82 – 82	Magnesium 3; via 4-carboxyglutamate
Metal binding	86 – 86	Calcium 6; via 4-carboxyglutamate
Metal binding	86 – 86	Magnesium 3; via 4-carboxyglutamate
Metal binding	93 – 93	Calcium 7
Metal binding	94 – 94	Calcium 7; via carbonyl oxygen
Metal binding	96 – 96	Calcium 7
Metal binding	110 – 110	Calcium 7
Metal binding	111 – 111	Calcium 7; via carbonyl oxygen
Modified residue	79 – 79	4-carboxyglutamate
Modified residue	82 – 82	4-carboxyglutamate
Modified residue	86 – 86	4-carboxyglutamate
Modified residue	110 – 110	(3R)-3-hydroxyaspartate
Modified residue	114 – 114	Phosphoserine
Glycosylation	85 – 85	O-linked (GalNAc...) threonine
Glycosylation	99 – 99	O-linked (Glc...) serine
Glycosylation	107 – 107	O-linked (Fuc...) serine
Disulfide bond	97 – 108
Alternative sequence	93 – 130	Missing. In isoform 2.
Turn	96 – 99

Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00740: Variant p.Cys97Ser