Literature summary for 3.4.21.41 extracted from

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.
Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement (2016), Am. J. Hum. Genet., 99, 1005-1014 .

Protein Variants

Protein Variants	Comment	Organism
C309W	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
C338R	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
C358F	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
C371W	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
D290G	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
G297D	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
I306-C309del	the deletion mutations are associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
L300P	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
R301P	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
R401-Y405del	the deletion mutations are associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
V50D	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
W364C	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
W435R	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
Y302C	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens

Metals/Ions	Comment	Organism	Structure
Ca2+	dependent on	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	P00736	-	-

Synonyms	Comment	Organism
C1r	-	Homo sapiens