UniProtKB/Swiss-Prot P20839: Variant p.Gly324Asp

Inosine-5'-monophosphate dehydrogenase 1
Gene: IMPDH1
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Variant information Variant position:

324 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 324 (G324D, p.Gly324Asp). 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:

Does not alter the enzymatic affinity of the corresponding enzyme; does not affect the affinity for single-stranded nucleic acid. Any additional useful information about the variant.

Sequence information Variant position:

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

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

VVTAAQAKNLIDAGVDGLRV G MGCGSICITQEVMACGRPQG 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                         VVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQG

Mouse                         VVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQG

Rat                           VVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQG

Bovine                        VVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQG

Xenopus tropicalis            VVTAAQAKNLIDAGVDALRVGMGCGSICITQEVMACGRPQG

Zebrafish                     VVTAAQAKNLIDAGVDALRVGMGCGSICITQEVMACGRPQG

Baker's yeast                 VVTKEQAANLIAAGADGLRIGMGTGSICITQKVMACGRPQG

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 – 514	Inosine-5'-monophosphate dehydrogenase 1
Active site	331 – 331	Thioimidate intermediate
Binding site	324 – 326
Binding site	326 – 326	in other chain
Binding site	328 – 328	in other chain
Binding site	329 – 329
Binding site	331 – 331	in other chain
Modified residue	341 – 341	Omega-N-methylarginine

Literature citations
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis.
Bowne S.J.; Sullivan L.S.; Mortimer S.E.; Hedstrom L.; Zhu J.; Spellicy C.J.; Gire A.I.; Hughbanks-Wheaton D.; Birch D.G.; Lewis R.A.; Heckenlively J.R.; Daiger S.P.;
Invest. Ophthalmol. Vis. Sci. 47:34-42(2006)
Cited for: VARIANTS RP10 MET-116; ASN-226; ILE-268 AND PRO-372; VARIANTS LCA11 TRP-105 AND LYS-198; VARIANTS THR-285 AND ASP-324; CHARACTERIZATION OF VARIANTS RP10 MET-116 AND PRO-372; CHARACTERIZATION OF VARIANTS LCA11 TRP-105 AND LYS-198; CHARACTERIZATION OF VARIANT ASP-324;

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.