UniProtKB/Swiss-Prot P49189 : Variant p.Cys116Ser
4-trimethylaminobutyraldehyde dehydrogenase
Gene: ALDH9A1
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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 CINNGKSIFEARLDIDISWQC LEYYAGLAASMAGEHIQLPG
Mouse TINNGKSIFEARLDVDTCWQC LEYYAGLAASMAGEHIQLPG
Rat TINNGKSIFEARLDVDTSWQC LEYYAGLAASMAGEHIQLPG
Pig TINNGKSIFEARLDVDISWQC LEYYAGLAGSMAGEHIQLPG
Bovine TINNGKSIFEARWDIDTSWQC LEYYAGLAGSMAGEHIQLPG
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;
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.