UniProtKB/Swiss-Prot Q9UHD8: Variant p.Arg76Cys

Septin-9
Gene: SEPTIN9
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Variant information Variant position:

76 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 Arginine (R) to Cysteine (C) at position 76 (R76C, p.Arg76Cys). 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 large size and basic (R) to medium size and polar (C) 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
Other resources:

Links to websites of interest for the variant.

Variant rs202079794 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

VASSTQKFQDLGVKNSEPSA R HVDSLSQRSPKASLRRVELS 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                         VASSTQKFQDLGVKNSEPSARHVDSLSQRSPKASLRRVELS

Mouse                         VASSSQKFQDLGVKNSEPAARLVDSLSQRSPKPSLRRVELA

Rat                           VASSSQKFQDLGVKNSEPAARLVDTLSQRSPKPSLRRVDLA

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	1 – 586	Septin-9
Region	62 – 108	Disordered
Compositional bias	75 – 89	Polar residues
Modified residue	62 – 62	N6-acetyllysine
Modified residue	82 – 82	Phosphoserine
Modified residue	85 – 85	Phosphoserine
Modified residue	89 – 89	Phosphoserine
Modified residue	96 – 96	Phosphoserine
Alternative sequence	1 – 251	Missing. In isoform 4.
Alternative sequence	1 – 224	Missing. In isoform 9.
Alternative sequence	1 – 164	Missing. In isoform 3.
Alternative sequence	1 – 112	Missing. In isoform 8.

Literature citations
Isolation and mapping of a human septin gene to a region on chromosome 17q, commonly deleted in sporadic epithelial ovarian tumors.
Russell S.E.H.; McIlhatton M.A.; Burrows J.F.; Donaghy P.G.; Chanduloy S.; Petty E.M.; Kalikin L.M.; Church S.W.; McIlroy S.; Harkin D.P.; Keilty G.W.; Cranston A.N.; Weissenbach J.; Hickey I.; Johnston P.G.;
Cancer Res. 60:4729-4734(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4 AND 5); VARIANTS CYS-76; LEU-145 AND VAL-576;

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.