UniProtKB/SwissProt variant VAR

Variant information

Variant position:

116

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 Cysteine (C) to Serine (S) at position 116 (C116S, p.Cys116Ser).

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 medium size and polar (C) to small size and polar (S)

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 allele ALDH9A1*2.

Any additional useful information about the variant.

Sequence information

Variant position:

116

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

Protein sequence length:

494

The length of the canonical sequence.

Location on the sequence:

CINNGKSIFEARLDIDISWQ C LEYYAGLAASMAGEHIQLPG

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                         CINNGKSIFEARLDIDISWQCLEYYAGLAASMAGEHIQLPG

Mouse                         TINNGKSIFEARLDVDTCWQCLEYYAGLAASMAGEHIQLPG

Rat                           TINNGKSIFEARLDVDTSWQCLEYYAGLAASMAGEHIQLPG

Pig                           TINNGKSIFEARLDVDISWQCLEYYAGLAGSMAGEHIQLPG

Bovine                        TINNGKSIFEARWDIDTSWQCLEYYAGLAGSMAGEHIQLPG

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 – 494	4-trimethylaminobutyraldehyde dehydrogenase
Chain	2 – 494	4-trimethylaminobutyraldehyde dehydrogenase, N-terminally processed
Helix	103 – 126

Literature citations

Human gamma-aminobutyraldehyde dehydrogenase (ALDH9): cDNA sequence, genomic organization, polymorphism, chromosomal localization, and tissue expression.
Lin S.W.; Chen J.C.; Hsu L.C.; Hsieh C.-L.; Yoshida A.;
Genomics 34:376-380(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANT SER-116;

Aldehyde dehydrogenase from adult human brain that dehydrogenates gamma-aminobutyraldehyde: purification, characterization, cloning and distribution.
Kikonyogo A.; Pietruszko R.;
Biochem. J. 316:317-324(1996)
Cited for: PROTEIN SEQUENCE OF 259-274; 353-366; 412-426 AND 434-453; NUCLEOTIDE SEQUENCE [MRNA] OF 29-494; FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; TISSUE SPECIFICITY; VARIANT SER-116;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49189: Variant p.Cys116Ser