UniProtKB/Swiss-Prot Q5VT66: Variant p.Cys246Ser

Mitochondrial amidoxime-reducing component 1
Gene: MTARC1
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Variant information Variant position:

246 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 246 (C246S, p.Cys246Ser). 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:

No effect on binding of the molybdenum cofactor; no significant effect on catalytic efficiency toward benzamidoxime; no significant effect on affinity for benzamidoxime. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs3738178 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SRLEKKVKATNFRPNIVISG C DVYAEDSWDELLIGDVELKR 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                         SRLEKKVKATNFRPNIVISGCDVYAEDSWDELLIGDVELKR

Mouse                         SRLERRVKATNFRPNIVISGCGVYAEDSWNEVLIGDVELKR

Xenopus laevis                SRLEQPVSLANFRPCIVASGCEAFAEDDWDDVRLGATRLKR

Zebrafish                     SRLDKDLSVFQFRPSIVVSDCEAFTEDTWDHIRIGEVELKR

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 – 337	Mitochondrial amidoxime-reducing component 1
Topological domain	41 – 337	Cytoplasmic
Domain	187 – 335	MOSC
Binding site	238 – 238
Binding site	240 – 240
Alternative sequence	251 – 251	E -> EVTLCPFGSFLGFDFFFK. In isoform 2 and isoform 3.
Beta strand	240 – 246

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-15; LEU-96; ALA-165; SER-246 AND HIS-247; Functional characterization of protein variants encoded by non-synonymous SNPs in MARC1 and MARC2 in healthy Caucasians.
Ott G.; Reichmann D.; Boerger C.; Cascorbi I.; Bittner F.; Mendel R.R.; Kunze T.; Clement B.; Havemeyer A.;
Drug Metab. Dispos. 42:718-725(2014)
Cited for: VARIANTS ALA-165; LYS-187; SER-246 AND HIS-247; CHARACTERIZATION OF VARIANTS LEU-96; ALA-165; LYS-187; SER-246; HIS-247 AND ILE-268; BIOPHYSICOCHEMICAL PROPERTIES; COFACTOR;

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.