Variant position: 1504 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1894 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 T-RRPTTTVRTTTR-TTTTTTP TPTTPIPTCPPGTLERHDDDG
Rat TTRRPTTTTRATRRTTTTTTTP EPTTPSPTCPPGTLEHRDE
Caenorhabditis elegans ---------------------- ------------------K
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
33 – 1894 Fibronectin type III domain-containing protein 1
1443 – 1516 Thr-rich
Use of differential subtraction method to identify genes that characterize the phenotype of cultured rheumatoid arthritis synoviocytes.
Seki T.; Selby J.; Haupl T.; Winchester R.;
Arthritis Rheum. 41:1356-1364(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS 1479-THR--THR-1484 DEL AND LYS-1504;
Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T.; Nakayama M.; Nakajima D.; Kikuno R.; Ohara O.;
DNA Res. 8:85-95(2001)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 43-1894 (ISOFORM 2); VARIANTS GLN-463; GLU-1003; GLU-1180; PRO-1261; ARG-1280; 1479-THR--THR-1484 DEL AND LYS-1504;
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] OF 43-1894 (ISOFORMS 1 AND 2); VARIANTS ALA-438; GLN-463; GLU-1003; GLU-1180; PRO-1261; ARG-1280; 1479-THR--THR-1484 DEL AND LYS-1504;
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] OF 1196-1894 (ISOFORM 1); VARIANTS PRO-1261; ARG-1280; 1479-THR--THR-1484 DEL AND LYS-1504;
MEL4B3, a novel mRNA is induced in skin tumors and regulated by TGF-beta and pro-inflammatory cytokines.
Anderegg U.; Breitschwerdt K.; Koehler M.J.; Sticherling M.; Haustein U.-F.; Simon J.C.; Saalbach A.;
Exp. Dermatol. 14:709-718(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1295-1894 (ISOFORM 1); INDUCTION BY TGFB1; VARIANTS 1479-THR--THR-1484 DEL AND LYS-1504;
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.