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:
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 PFPPPPPGAMFGASRDYFPP GDFPGPPPAPFAMRNVYPPRG
Mouse SFPPPPPGSIYAAPRDYFPP RDFPGPPLPPFPGRTVYAPRG
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
20 – 1412 Melanoma inhibitory activity protein 2
668 – 1412 Cytoplasmic
1259 – 1412 Proline-rich domain (PRD); mediates interaction with the COPII coat subunits SEC23A and SEC23B
1316 – 1412 Disordered
1345 – 1359 Pro residues
655 – 1412 Missing. In isoform 2.
1333 – 1355 Missing. In isoform 5.
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); VARIANTS ALA-6 (ISOFORMS 6 AND 7); 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;
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.