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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06132: Variant p.Arg142Gln

Uroporphyrinogen decarboxylase
Gene: UROD
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Variant information Variant position: help 142
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 142 (R142Q, p.Arg142Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In FPCT.
Other resources: help


Sequence information Variant position: help 142
Protein sequence length: help 367
Location on the sequence: help RDPEVVASELGYVFQAITLT R QRLAGRVPLIGFAGAPWTLM
Residue conservation: help 
Human                         RDPEVVASELGYVFQAITLTRQRLAGRVPLIGFAGAPWTLM

Mouse                         RDPAAAASELGYVFQAITLTRQRLAGRVPLIGFAGAPWTLM

Sheep                         RDPATVASELGYVFQAITLTRQQLAGRVPLIGFAGAPWTLM

Zebrafish                     KTQVDVYSELDYVFKAITLTRHKIEGKVPLIGFTGAPWTLM

Drosophila                    -TPDGALSRLSYVGDAITMMRHKLEGRVPLIGFTGAPWTLM

Slime mold                    QFPVDVNKELGYVFDALTLTRKRLEGRVPLIGFTGAPWTLM

Baker's yeast                 DYKVDVLKELDWAFKAITMTRIKLDGEVPLFGFCGGPWTLM

Fission yeast                 EKTPNISAKLGYVMDAISLTREKLDGQVPLMGFSGAPWTIM
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 367 Uroporphyrinogen decarboxylase
Helix 132 – 145



Literature citations
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).
Cappellini M.D.; Martinez Di Montemuros F.; Tavazzi D.; Fargion S.; Pizzuti A.; Comino A.; Cainelli T.; Fiorelli G.;
Hum. Mutat. 17:350-350(2001)
Cited for: VARIANTS FPCT GLN-142; GLN-161; PHE-219 AND SER-235;
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.