UniProtKB/SwissProt variant VAR

Complement C2
Gene: C2
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Variant information Variant position:

209
Type of variant:

LP/P [Disclaimer]
Residue change:

From Serine (S) to Phenylalanine (F) at position 209 (S209F, p.Ser209Phe).
Physico-chemical properties:

Change from small size and polar (S) to large size and aromatic (F)
BLOSUM score:

-2
Variant description:

In C2D.
Other resources:

Variant rs28934590 [ dbSNP | Ensembl ]

Sequence information Variant position:

209
Protein sequence length:

752
Location on the sequence:

RECQGNGVWSGTEPICRQPY S YDFPEDVAPALGTSFSHMLG
Residue conservation:

Human                         RECQGNGVWSGTEPICRQPYSYDFPEDVAPALGTSFSHMLG

Gorilla                       RECQGNGVWSGTEPICRQPYSYDFPEDVAPALGTSFSHMLG

Chimpanzee                    RECQGNGVWSGTEPICRQPYSYDFPEDVAPALGTSFSHMLG

Mouse                         RECQSNGVWSGSEPICRQPYSYDFPEDVASALDTSLTNLLG

Bovine                        RECQDDGVWSGTEAICRQPYSYDFPEDVAPALGTSFSHLLA

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	21 – 752	Complement C2
Chain	21 – 243	Complement C2b fragment
Helix	207 – 211

Literature citations
Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion.
Wetsel R.A.; Kulics J.; Lokki M.L.; Kiepiela P.; Akama H.; Johnson C.A.; Densen P.; Colten H.R.;
J. Biol. Chem. 271:5824-5831(1996)
Cited for: VARIANTS C2D PHE-209 AND ARG-464;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06681: Variant p.Ser209Phe