UniProtKB/SwissProt variant VAR

Variant information

Variant position:

73

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 Alanine (A) at position 73 (G73A, p.Gly73Ala).

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 small size and hydrophobic (A)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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 TPID.

Any additional useful information about the variant.

Sequence information

Variant position:

73

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

Protein sequence length:

249

The length of the canonical sequence.

Location on the sequence:

RQKLDPKIAVAAQNCYKVTN G AFTGEISPGMIKDCGATWVV

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                         RQKLD-PKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWVV

Gorilla                       RQKLD-PKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWV

                              RQKLD-AKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWV

Rhesus macaque                RQKLD-PKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWV

Chimpanzee                    RQKLD-PKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWV

Mouse                         RQKLD-PKIAVAAQNCYKVTNGAFTGEISPGMIKDLGATWV

Rat                           RQKLD-PKIAVAAQNCYKVTNGAFTGEISPGMIKDLGATWV

Pig                           RQKLD-PKIAVAAQNCYKVANGAFTGEIGPGMIKDLGATWV

Bovine                        RQKLD-PKIAVAAQNCYKVANGAFTGEISPGMIKDLGATWV

Rabbit                        RQKLD-PKIAVAAQNCYKVTNGAFTGEISPGMIKDCGATWV

Chicken                       RQKLD-AKIGVAAQNCYKVPKGAFTGEISPAMIKDIGAAWV

Xenopus laevis                RQKLD-AKIALSAQNCYKVAKGAFTGEISPAMIKDCGATWV

Xenopus tropicalis            RQKLD-AKFAVSAQNCYKVAKGAFTGEISPAMIKDCGATWV

Caenorhabditis elegans        KSKLK-AGVLVAAQNCYKVPKGAFTGEISPAMIKDLGLEWV

Drosophila                    RNLLP-CELGLAGQNAYKVAKGAFTGEISPAMLKDIGADWV

Slime mold                    SNKLDNKKFKVCSQNCYSVAKGAFTGEISANMLVDLGIPYV

Baker's yeast                 VSLVKKPQVTVGAQNAYLKASGAFTGENSVDQIKDVGAKWV

Fission yeast                 RQQVK-KDIGVGAQNVFDKKNGAYTGENSAQSLIDAGITYT

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	2 – 249	Triosephosphate isomerase
Modified residue	68 – 68	3'-nitrotyrosine
Modified residue	80 – 80	Phosphoserine
Alternative sequence	1 – 82	Missing. In isoform 3.
Beta strand	69 – 74

Literature citations

Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus.
Watanabe M.; Zingg B.C.; Mohrenweiser H.W.;
Am. J. Hum. Genet. 58:308-316(1996)
Cited for: VARIANTS TPID ALA-73; ASP-105 AND MET-155;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P60174: Variant p.Gly73Ala