UniProtKB/Swiss-Prot Q96EY8: Variant p.Met239Lys

Corrinoid adenosyltransferase MMAB
Gene: MMAB
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Variant information Variant position:

239 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 Methionine (M) to Lysine (K) at position 239 (M239K, p.Met239Lys). 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 hydrophobic (M) to large size and basic (K) 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
Other resources:

Links to websites of interest for the variant.

Variant rs9593 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

YLFTLARYAAMKEGNQEKIY M KNDPSAESEGL 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                         YLFTLARYAAMKEGNQEKIYMKNDPSAESEGL

Mouse                         YLFTVARYAAMKEGSQEKIYKKHDV-------

Bovine                        YLFTLARYTAMKEGNPEKIYKKNDLSDRT---

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	33 – 250	Corrinoid adenosyltransferase MMAB
Modified residue	230 – 230	N6-acetyllysine; alternate
Modified residue	230 – 230	N6-succinyllysine; alternate

Literature citations
Identification of the gene responsible for the cblB complementation group of vitamin B(12)-dependent methylmalonic aciduria.
Dobson C.M.; Wai T.; Leclerc D.; Kadir H.; Narang M.; Lerner-Ellis J.P.; Hudson T.J.; Rosenblatt D.S.; Gravel R.A.;
Hum. Mol. Genet. 11:3361-3369(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MMAB THR-135; TRP-191 AND LYS-193; VARIANTS GLN-19; TRP-186 AND LYS-239; Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant.
Leal N.A.; Park S.D.; Kima P.E.; Bobik T.A.;
J. Biol. Chem. 278:9227-9234(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; CATALYTIC ACTIVITY; VARIANTS GLN-19 AND LYS-239; INVOLVEMENT IN DISEASE; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS GLN-19 AND LYS-239;

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.