UniProtKB/SwissProt variant VAR

Variant information

Variant position:

126

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 Glycine (G) to Aspartate (D) at position 126 (G126D, p.Gly126Asp).

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 glycine (G) to medium size and acidic (D)

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 MOCODA.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs372246702 [ dbSNP | Ensembl ]

Sequence information

Variant position:

126

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

Protein sequence length:

636

The length of the canonical sequence.

Location on the sequence:

EILTLARLFVKEGIDKIRLT G GEPLIRPDVVDIVAQLQRLE

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                         EILTLARLFVKEGIDKIRLTGGEPLIRPDVVDIVAQLQRLE

Mouse                         EILTLARLFVKEGVDKIRLTGGEPLIRPDVVDIVARLHGLE

Bovine                        EILTLARLFVKEGVDKIRLTGGEPLIRPDVVDIVAQLRQLE

Caenorhabditis elegans        EVLRLVKLFAAHGVDKVRLTGGEPTIRKDIVHIVEGISSTP

Drosophila                    EILRLARIFVEQGVRKIRLTGGEPTVRRDIVEIVAQMKALP

Slime mold                    EIIRLSKLFVSAGVNKIRFTGGEPLVRKDVEPLIEEVGKIK

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 – 636	Molybdenum cofactor biosynthesis protein 1
Domain	64 – 277	Radical SAM core
Region	1 – 383	Molybdenum cofactor biosynthesis protein A
Binding site	123 – 123	GTP
Binding site	127 – 127	S-adenosyl-L-methionine; via carbonyl oxygen

Literature citations

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.
Reiss J.P.; Christensen E.; Kurlemann G.; Zabot M.-T.; Dorche C.;
Hum. Genet. 103:639-644(1998)
Cited for: VARIANTS MOCODA TRP-73; ASP-126; ASP-127; GLN-319 AND GLU-324;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NZB8: Variant p.Gly126Asp