Variant position: 289 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 376 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 DEDPERMNEHWMPVYHLCQP CAVHYDFVGSYERLEADANQV
Mouse DEDPEHMNEHWMPVYHLCQP CAVHYDFVGSYERLEADANQV
Zebrafish DEDPERMNEHWMPIYNLCQP CAIEYDFIGSYERLESDASYI
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 – 376 Carbohydrate sulfotransferase 14
61 – 376 Lumenal
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Miyake N.; Kosho T.; Mizumoto S.; Furuichi T.; Hatamochi A.; Nagashima Y.; Arai E.; Takahashi K.; Kawamura R.; Wakui K.; Takahashi J.; Kato H.; Yasui H.; Ishida T.; Ohashi H.; Nishimura G.; Shiina M.; Saitsu H.; Tsurusaki Y.; Doi H.; Fukushima Y.; Ikegawa S.; Yamada S.; Sugahara K.; Matsumoto N.;
Hum. Mutat. 31:966-974(2010)
Cited for: VARIANTS EDSMC1 LEU-281; SER-289 AND CYS-293; CHARACTERIZATION OF VARIANTS EDSMC1 LEU-281; SER-289 AND CYS-293;
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