Sequence information
Variant position: 294 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 688 The length of the canonical sequence.
Location on the sequence:
TDLTGQKKGWKLRYHGDPMP
C PKEDTPNSVWEPAKAKYVFR
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 TDLTGQKKGWKLRYHGDPMPC PKEDTPNSVWEPAKAKYVFR
Rat TDLTGQNKGWKLRYHGDPIPC PKEISANSIWEPEKAKYVFK
Pig TDETEQKKGWKFRYHGDPIPC PKEVTANSFWEPEKAKYVFK
Bovine TDGSEQRKGWKFRYHGDPIPC PKEVTANSFWEPERAKYVFR
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
Chain
16 – 688
Complement C1s subcomponent
Chain
16 – 437
Complement C1s subcomponent heavy chain
Domain
292 – 356
Sushi 1
Disulfide bond
294 – 341
Literature citations
Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.
Kapferer-Seebacher I.; Pepin M.; Werner R.; Aitman T.J.; Nordgren A.; Stoiber H.; Thielens N.; Gaboriaud C.; Amberger A.; Schossig A.; Gruber R.; Giunta C.; Bamshad M.; Bjoerck E.; Chen C.; Chitayat D.; Dorschner M.; Schmitt-Egenolf M.; Hale C.J.; Hanna D.; Hennies H.C.; Heiss-Kisielewsky I.; Lindstrand A.; Lundberg P.; Mitchell A.L.; Nickerson D.A.; Reinstein E.; Rohrbach M.; Romani N.; Schmuth M.; Silver R.; Taylan F.; Vandersteen A.; Vandrovcova J.; Weerakkody R.; Yang M.; Pope F.M.; Byers P.H.; Zschocke J.;
Am. J. Hum. Genet. 99:1005-1014(2016)
Cited for: INVOLVEMENT IN EDSPD2; VARIANTS EDSPD2 ARG-294 AND VAL-316 DEL;
Disclaimer:
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.