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UniProtKB/Swiss-Prot P00451: Variant p.Arg2135Pro

Coagulation factor VIII
Gene: F8
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Variant information Variant position: help 2135
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Proline (P) at position 2135 (R2135P, p.Arg2135Pro).
Physico-chemical properties: help Change from large size and basic (R) to medium size and hydrophobic (P)
BLOSUM score: help -2
Variant description: help In HEMA; severe.
Other resources: help


Sequence information Variant position: help 2135
Protein sequence length: help 2351
Location on the sequence: help LYISQFIIMYSLDGKKWQTY R GNSTGTLMVFFGNVDSSGIK
Residue conservation: help 
Human                         LYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIK

                              LYVSQFIIMYSLDGNKWHSYRGNSTGTLMVFFGNVDSSGIK

Mouse                         LYISQFIIMYSLDGKKWLSYQGNSTGTLMVFFGNVDSSGIK

Pig                           LYISQFIIMYSLDGRNWQSYRGNSTGTLMVFFGNVDASGIK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 20 – 2351 Coagulation factor VIII
Chain 1668 – 2351 Factor VIIIa light chain
Domain 2040 – 2188 F5/8 type C 1
Glycosylation 2137 – 2137 N-linked (GlcNAc...) asparagine
Disulfide bond 2040 – 2188
Alternative sequence 9 – 2143 Missing. In isoform 2.



Literature citations
A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences.
Levinson B.; Janco R.L.; Phillips J.A. III; Gitschier J.;
Nucleic Acids Res. 15:9797-9805(1987)
Cited for: VARIANT HEMA PRO-2135;
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.