UniProtKB/Swiss-Prot Q96PC5: Variant p.Gly1346Arg

Melanoma inhibitory activity protein 2
Gene: MIA2
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Variant information Variant position:

1346 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 Glycine (G) to Arginine (R) at position 1346 (G1346R, p.Gly1346Arg). 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 glycine (G) to large size and basic (R) 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 rs1060878 [ dbSNP | Ensembl ]

Sequence information Variant position:

1346 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1412 The length of the canonical sequence.
Location on the sequence:

PFPPPPPGAMFGASRDYFPP G DFPGPPPAPFAMRNVYPPRG 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                         PFPPPPPGAMFGASRDYFPPGDFPGPPPAPFAMRNVYPPRG

Mouse                         SFPPPPPGSIYAAPRDYFPPRDFPGPPLPPFPGRTVYAPRG

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	20 – 1412	Melanoma inhibitory activity protein 2
Topological domain	668 – 1412	Cytoplasmic
Region	1259 – 1412	Proline-rich domain (PRD); mediates interaction with the COPII coat subunits SEC23A and SEC23B
Region	1316 – 1412	Disordered
Compositional bias	1345 – 1359	Pro residues
Alternative sequence	655 – 1412	Missing. In isoform 2.
Alternative sequence	1333 – 1355	Missing. In isoform 5.

Literature citations
cDNA cloning and chromosomal mapping of a predicted coiled-coil proline-rich protein immunogenic in meningioma patients.
Heckel D.; Brass N.; Fischer U.; Blin N.; Steudel I.; Tuereci O.; Fackler O.; Zang K.D.; Meese E.;
Hum. Mol. Genet. 6:2031-2041(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 6 AND 7); VARIANT ALA-6 (ISOFORMS 6 AND 7); VARIANTS GLN-968; VAL-1307 AND ARG-1346; cTAGE: a cutaneous T cell lymphoma associated antigen family with tumor-specific splicing.
Usener D.; Schadendorf D.; Koch J.; Duebel S.; Eichmueller S.;
J. Invest. Dermatol. 121:198-206(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 8 AND 9); VARIANT ALA-6 (ISOFORM 9); VARIANTS GLN-968 AND ARG-1346; TISSUE SPECIFICITY; The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 10); VARIANTS GLN-968 AND ARG-1346;

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.