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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08603: Variant p.Asn997Thr

Complement factor H
Gene: CFH
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Variant information Variant position: help 997
Type of variant: help LB/B
Residue change: help From Asparagine (N) to Threonine (T) at position 997 (N997T, p.Asn997Thr).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 997
Protein sequence length: help 1231
Location on the sequence: help KWSHPPSCIKTDCLSLPSFE N AIPMGEKKDVYKAGEQVTYT
Residue conservation: help
Human                         KWSHPPSCIKTDCLSLPSFENAIPMGEKKDVYKAGEQVTYT

Mouse                         KWSDPPKCIKTDCDVLPTVKNAIIRGKSKKSYRTGEQVTFR

Bovine                        EWSRPQDCISTNCVNLPTFEDAVLTDREKDFYRSGEQVAFK

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 19 – 1231 Complement factor H
Domain 987 – 1045 Sushi 17
Disulfide bond 989 – 1032
Alternative sequence 450 – 1231 Missing. In isoform 2.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.