Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08397: Variant p.Leu85Arg

Porphobilinogen deaminase
Gene: HMBS
Feedback?
Variant information Variant position: help 85
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Arginine (R) at position 85 (L85R, p.Leu85Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In AIP.


Sequence information Variant position: help 85
Protein sequence length: help 361
Location on the sequence: help DTALSKIGEKSLFTKELEHA L EKNEVDLVVHSLKDLPTVLP
Residue conservation: help 
Human                         DTALSKIG---EKSLFTKELEHALEKNE----VDLVVHSLKDLPTVLP

Mouse                         DTALSKIG---EKSLFTKELENALEKNE----VDLVVHSLK

Rat                           DTALSKIG---EKSLFTKELENALEKNE----VDLVVHSLK

Bovine                        DTALSKIG---EKSLFTKELEHALERNE----VDLVVHSLK

Slime mold                    DVSLSKIG---DKGLFTKELEDMMLNGT----IDLAVHSLK

Baker's yeast                 FKPLYSFG---GKALWTKELEDHLYHDDPSKKLDLIVHSLK

Fission yeast                 SKALFEFKRQLAKSLWTRELEALLVTNQ----CRILVHSLK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 361 Porphobilinogen deaminase
Modified residue 69 – 69 Phosphoserine
Modified residue 74 – 74 N6-acetyllysine
Helix 73 – 86



Literature citations
Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.
Whatley S.D.; Woolf J.R.; Elder G.H.;
Hum. Genet. 104:505-510(1999)
Cited for: VARIANTS AIP CYS-22; CYS-26; HIS-26; PRO-31; SER-42; ASN-61; ARG-85; GLY-90; ARG-111; GLN-173; TRP-173; ARG-177; CYS-195; ASP-219; ARG-247 AND ILE-269;
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.