Variant position: 135 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 454 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 RPEEEEDELAHRCSSFMAPP VTDLGELRRRPGDMKTKMELL
Mouse RREEDGDELARRCSTFMSSP VTELRELRRRPEDMKTKMELM
Rat RLEEDGDELARRCSTFMSSP VTELRELGRRPDDMKTKMELM
Drosophila -------------SRFMAEP ITDSKALLGDKENMRHRMEIL
Slime mold -------------------- MTSTNEPIPTEEEIKNGFKFI
Baker's yeast -------------------- MPAPQDP--RNLPIRQQMEAL
Fission yeast -------------------- MSDI-----TVEPIGKQMEKL
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
111 – 454 Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.
To-Figueras J.; Badenas C.; Enriquez M.T.; Segura S.; Alvarez C.; Mila M.; Lecha M.; Herrero C.;
Mol. Genet. Metab. 85:160-163(2005)
Cited for: VARIANTS HCP ALA-135; ARG-214 AND ARG-249;
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.