Variant position: 311 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 ARECVGK-TVTLQGNLDPCAL YASEEEIGQLVKQMLDDFG--PH
Mouse ARERVGK-AVTLQGNLDPCAL YASEEEIGRLVQQMLDDFG-
Sheep ARERVGK-TVTLQGNLDPCAL YASEEEIGKLVQQMLNDFG-
Zebrafish ARVRTGG-KVSLQGNMDPCAL YGTKESISEIVRRMLEGFG-
Drosophila ARNLVGP-NITLQGNLDPQDM YRDPDELRNLTTEMVHKFG-
Slime mold AREMVAD-RVSLQGNLDPCVL YCGDQVIRDQTQKMLQSFG-
Baker's yeast AVKINKN-RVTLQGNLDPGVM YGSKEVITKKVKQMIEAFGG
Fission yeast AVRIRGNRRVTFQGNLDPNIL YGTREIIEARTKEMIQDFGG
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
307 – 311
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
Moran-Jimenez M.J.; Ged C.; Romana M.; de Salamanca R.E.; Taieb A.; Topi G.; D'Alessandro L.; de Verneuil H.;
Am. J. Hum. Genet. 58:712-721(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HEP LEU-62; LEU-77; GLU-281 AND CYS-311;
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.