UniProtKB/Swiss-Prot P51649: Variant p.Val406Ile

Succinate-semialdehyde dehydrogenase, mitochondrial
Gene: ALDH5A1
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Variant information Variant position:

406 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 Valine (V) to Isoleucine (I) at position 406 (V406I, p.Val406Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 rs143741652 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

EKAVEKVEKQVNDAVSKGAT V VTGGKRHQLGKNFFEPTLLC 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                         EKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFFEPTLLC

Gorilla                       EKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFFEPTLLC

Chimpanzee                    EKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFFEPTLLC

Mouse                         EKAVEKVEKQVNDAVAKGATVVTGGKRHQSGGNFFEPTLLS

Rat                           EKAVEKVEKHVNDAVAKGATVVTGGKRHQSGGNFFEPTLLS

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	48 – 535	Succinate-semialdehyde dehydrogenase, mitochondrial
Modified residue	402 – 402	N6-succinyllysine
Modified residue	411 – 411	N6-acetyllysine
Beta strand	405 – 408

Literature citations
Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.
Blasi P.; Boyl P.P.; Ledda M.; Novelletto A.; Gibson K.M.; Jakobs C.; Hogema B.; Akaboshi S.; Loreni F.; Malaspina P.;
Mol. Genet. Metab. 76:348-362(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); NUCLEOTIDE SEQUENCE [MRNA] OF 69-535 (ISOFORM 2); ALTERNATIVE SPLICING; VARIANTS ARG-36; TYR-180; LEU-182; SER-237; SER-372 AND ILE-406; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS ARG-36; TYR-180; LEU-182 AND SER-237; Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
Akaboshi S.; Hogema B.M.; Novelletto A.; Malaspina P.; Salomons G.S.; Maropoulos G.D.; Jakobs C.; Grompe M.; Gibson K.M.;
Hum. Mutat. 22:442-450(2003)
Cited for: VARIANTS SSADHD PHE-93; ARG-176; TYR-223; MET-233; SER-255; GLU-268; LYS-335; GLN-382; LEU-382; ASP-409 AND ARG-533; VARIANTS ARG-36; TYR-180; LEU-182; SER-237 AND ILE-406; CHARACTERIZATION OF VARIANTS ARG-36; PHE-93; ARG-176; TYR-180; LEU-182; TYR-223; MET-233; SER-237; SER-255; GLU-268; LYS-335; LEU-382; ASP-409 AND ARG-533; CATALYTIC ACTIVITY;

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.