UniProtKB/Swiss-Prot Q9UBK8: Variant p.Ser175Leu

Methionine synthase reductase
Gene: MTRR
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Variant information Variant position:

175 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 Serine (S) to Leucine (L) at position 175 (S175L, p.Ser175Leu). 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 small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 rs1532268 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RSSRGQEEISGALPVASPAS S RTDLVKSELLHIESQVELLR 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                         RSSRGQEEI--SGALPVASPASSRTDLVKSELLHIESQVELL--R

Mouse                         KSLGGQENM--SDTLSRASDAPL-STAMKPELLHIQSQVEL

Rat                           KSLGGQEDMSDSDTLAQASDAPL-SMAMKPELLHIQSQVEL

Bovine                        LSNRGREDT--SETLTMASHASR--DAVTPELLHVESQVGL

Caenorhabditis elegans        DISADK-----MNAITESSNLKL--NQVKTE----EEKKAL

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 – 698	Methionine synthase reductase
Region	166 – 247	Hinge
Modified residue	171 – 171	Phosphoserine
Modified residue	189 – 189	Phosphoserine

Literature citations
Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene.
Leclerc D.; Odievre M.-H.; Wu Q.; Wilson A.; Huizenga J.; Rozen R.; Scherer S.W.; Gravel R.A.;
Gene 240:75-88(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS A AND B); VARIANT LEU-175; Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.
Leclerc D.; Wilson A.; Dumas R.; Gafuik C.; Song D.; Watkins D.; Heng H.H.Q.; Rommens J.M.; Scherer S.W.; Rosenblatt D.S.; Gravel R.A.;
Proc. Natl. Acad. Sci. U.S.A. 95:3059-3064(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B); VARIANT LEU-175; VARIANT HMAE LEU-576 DEL; Toward a comprehensive characterization of a human cancer cell phosphoproteome.
Zhou H.; Di Palma S.; Preisinger C.; Peng M.; Polat A.N.; Heck A.J.; Mohammed S.;
J. Proteome Res. 12:260-271(2013)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-171 AND SER-189; VARIANT [LARGE SCALE ANALYSIS] LEU-175; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.
O'Leary V.B.; Mills J.L.; Pangilinan F.; Kirke P.N.; Cox C.; Conley M.; Weiler A.; Peng K.; Shane B.; Scott J.M.; Parle-McDermott A.; Molloy A.M.; Brody L.C.;
Mol. Genet. Metab. 85:220-227(2005)
Cited for: VARIANTS MET-22; LEU-175 AND ARG-350;

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.