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Literature summary 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 .
    View publication on PubMedView publication on EuropePMC

Protein Variants

EC Number Protein Variants Comment Organism
3.4.21.41 C309W the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.41 C338R the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.41 C358F the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.41 C371W the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.41 D290G the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.41 G297D the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.41 I306-C309del the deletion mutations are associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.41 L300P the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.41 R301P the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.41 R401-Y405del the deletion mutations are associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.41 V50D the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.41 W364C the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.41 W435R the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.41 Y302C the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.42 C294R the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens
3.4.21.42 V316Del the mutation is associated with periodontal Ehlers-Danlos syndrome Homo sapiens

Metals/Ions

EC Number Metals/Ions Comment Organism Structure
3.4.21.41 Ca2+ dependent on Homo sapiens
3.4.21.42 Ca2+ dependent on Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
3.4.21.41 Homo sapiens P00736
-
-
3.4.21.42 Homo sapiens P09871
-
-

Synonyms

EC Number Synonyms Comment Organism
3.4.21.41 C1r
-
 Homo sapiens
3.4.21.42 C1s
-
 Homo sapiens