Variant position: 80 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 367 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human RSPEACCELTLQPLRRFP--LD AAIIFSDILVVPQALGMEVTM
Mouse RSPEACCELTLQPLRRFP--LD AAIIFSDILVVPQALGMEV
Sheep RSPEACCELTLQPLRRFP--LD AAIIFSDILVVPQALGMEV
Zebrafish RSPEACCELTLQPLRRFP--FD AAIIFSDILVVPQAMGMEV
Drosophila RTPELACEVTMQPLRRFD--LD ASIIFSDILVIPQALGLTV
Slime mold RTPELACKVTLQPLDRFP--LD AAIIFSDILVVPQAMGIEV
Baker's yeast RDAEIASEITIQPVRRYRGLID AAIIFSDILVIPQAMGMRV
Fission yeast QTPETACELTLQPVTRFKGLLD AAIIFSDILVIPQALGMQV
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 367 Uroporphyrinogen decarboxylase
85 – 85 Substrate
86 – 86 Substrate
86 – 86 Transition state stabilizer
86 – 86 D -> E. 5-10% of wild-type activity.
86 – 86 D -> G. Very low activity. Binds substrate with similar geometry as wild-type.
86 – 86 D -> N. No activity. Unable to bind substrate.
Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
McManus J.F.; Begley C.G.; Sassa S.; Ratnaike S.;
Cited for: VARIANT HEP GLY-80; VARIANTS FPCT GLN-253; ARG-318 AND THR-334;
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.