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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08603: Variant p.Cys1043Arg

Complement factor H
Gene: CFH
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Variant information Variant position: help 1043
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Arginine (R) at position 1043 (C1043R, p.Cys1043Arg).
Physico-chemical properties: help Change from medium size and polar (C) to large size and basic (R)
BLOSUM score: help -3
Variant description: help In AHUS1.


Sequence information Variant position: help 1043
Protein sequence length: help 1231
Location on the sequence: help KMDGASNVTCINSRWTGRPT C RDTSCVNPPTVQNAYIVSRQ
Residue conservation: help 
Human                         KMDGASNVTCINSRWTGRPTCRDTSCVNPPTVQNAYIVSRQ

Mouse                         QMNGSDTVTCVNSRWIGQPVCKDNSCVDPPHVPNATIVTRT

Bovine                        QLDGSNTIQCIKSKWIGRPACRDVSCGNPPQVENA-IIHNQ
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 19 – 1231 Complement factor H
Domain 987 – 1045 Sushi 17
Glycosylation 1029 – 1029 N-linked (GlcNAc...) (complex) asparagine
Disulfide bond 1018 – 1043
Alternative sequence 450 – 1231 Missing. In isoform 2.



Literature citations
Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries.
Neumann H.P.H.; Salzmann M.; Bohnert-Iwan B.; Mannuelian T.; Skerka C.; Lenk D.; Bender B.U.; Cybulla M.; Riegler P.; Koenigsrainer A.; Neyer U.; Bock A.; Widmer U.; Male D.A.; Franke G.; Zipfel P.F.;
J. Med. Genet. 40:676-681(2003)
Cited for: VARIANTS AHUS1 TRP-630; LYS-850; CYS-978; PHE-1021; ARG-1043; GLY-1134; ASP-1142; ARG-1157; ARG-1183 AND SER-1226;
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.