Variant position: 715 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 739 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 TNGEYCKKEEENLLFYSVYE AMAFAEVSKNQKGVCVPNGLS
Mouse ARGEYCKKEEETLLFYSLSE AVAFAEDSQNQKGVCVVNGLS
Rat AKGEYCKKEEENLLFYSLSE AVAFAEESQKEKGVCVVNGLS
Bovine ARGEYCKKDEENLLFYSIYE AMTFAEDSQNQKERHIPNGPN
Sheep ARGEYCKKDEENLLFYSVYE AMTFAEDSQNQKERYVPNGPS
Horse ARGEYCKDEEENLLFYSVYE AMAFAEESQNQKGICIPNGL-
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
1 – 739 Sulfate transporter
568 – 719 STAS
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
Haestbacka J.; Superti-Furga A.; Wilcox W.R.; Rimoin D.L.; Cohn D.H.; Lander E.S.;
Am. J. Hum. Genet. 58:255-262(1996)
Cited for: VARIANTS AO2 GLU-255; TRP-279 AND VAL-715;
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson G.C.; Mittaz-Crettol L.; Taylor J.A.; Mortier G.R.; Spranger J.; Zabel B.; Le Merrer M.; Cormier-Daire V.; Hall C.M.; Offiah A.; Wright M.J.; Savarirayan R.; Nishimura G.; Ramsden S.C.; Elles R.; Bonafe L.; Superti-Furga A.; Unger S.; Zankl A.; Briggs M.D.;
Hum. Mutat. 33:144-157(2012)
Cited for: VARIANTS EDM4 SER-256; TRP-279; SER-653 AND VAL-715;
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.