Variant position: 713 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 855 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 QIASGMKYLSSLNFVHRDLA TRNCLVGKNYTIKIADFGMSR
Mouse QIASGMKYLSSLNFVHRDLA TRNCLVGKNYTIKIADFGMSR
Baker's yeast AVGGALAFLI---------- ---------------------
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.
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
Bargal R.; Cormier-Daire V.; Ben-Neriah Z.; Le Merrer M.; Sosna J.; Melki J.; Zangen D.H.; Smithson S.F.; Borochowitz Z.; Belostotsky R.; Raas-Rothschild A.;
Am. J. Hum. Genet. 84:80-84(2009)
Cited for: VARIANTS SEMD-SL ILE-713; ARG-726 AND CYS-752;
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.
Ali B.R.; Xu H.; Akawi N.A.; John A.; Karuvantevida N.S.; Langer R.; Al-Gazali L.; Leitinger B.;
Hum. Mol. Genet. 19:2239-2250(2010)
Cited for: VARIANT SEMD-SL LYS-113; CHARACTERIZATION OF VARIANTS SEMD-SL LYS-113; ILE-713; ARG-726 AND CYS-752; MUTAGENESIS OF TRP-52; GLYCOSYLATION; SUBCELLULAR LOCATION;
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.