UniProtKB/SwissProt variant VAR

Variant information

Variant position:

100

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 Serine (S) to Proline (P) at position 100 (S100P, p.Ser100Pro).

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 small size and polar (S) to medium size and hydrophobic (P)

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 CMARQ3; affects protein stability owing to accelerated proteasomal degradation.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs267606695 [ dbSNP | Ensembl ]

Sequence information

Variant position:

100

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

Protein sequence length:

290

The length of the canonical sequence.

Location on the sequence:

CEVTNDGHTIQVILKSKSVL S GGPLPQGHEFELYEVRFHWG

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                         CEVTNDGHTIQVILKSKSVLSGGPLPQGHEFELYEVRFHWG

Mouse                         CEVTNDGHTIQVILKSKSVLSGGPLPQGQEFELYEVRFHWG

Rat                           CEVTNDGHTIQVILKSKSVLSGGPLPQGQEFELYEVRFHWG

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 – 290	Carbonic anhydrase-related protein
Domain	27 – 289	Alpha-carbonic anhydrase
Active site	87 – 87	Proton donor/acceptor
Binding site	118 – 118
Site	116 – 116	Ancestral zinc ligand
Beta strand	97 – 101

Literature citations

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.
Turkmen S.; Guo G.; Garshasbi M.; Hoffmann K.; Alshalah A.J.; Mischung C.; Kuss A.; Humphrey N.; Mundlos S.; Robinson P.N.;
PLoS Genet. 5:E1000487-E1000487(2009)
Cited for: VARIANT CMARQ3 PRO-100; CHARACTERIZATION OF VARIANT CMARQ3 PRO-100;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35219: Variant p.Ser100Pro