Variant position: 147 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 193 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 SGLRSLTTLLRALGAQKEAI SPPDAASAA--PLRTITADTFRK
Rhesus macaque SGLRSITTLLRALGAQ-EAI SLPDAASAA--PLRTITADTF
Mouse SGLRSLTSLLRVLGAQKELM SPPDTTPPA--PLRTLTVDTF
Rat SGLRSLTSLLRVLGAQKELM SPPDATQAA--PLRTLTADTF
Pig SGLRSLTSLLRALGAQKEAI PLPDASPSSATPLRTFAVDTL
Bovine SGLRSLTSLLRALGAQKEAI SLPDATPSAA-PLRAFTVDAL
Rabbit SGLRSLTSLLRALGVQKEAV SPPEAASSAA-PLRTVAADTL
Sheep SGLRSLTSLLRALGAQKEAI PLPDATPSAA-PLRIFTVDAL
Cat SSLRSLTSLLRALGAQKEAT SLPEATSAA--PLRTFTVDTL
Horse SSLRSLTSLLRALGAQKEAI SPPDAASAA--PLRTFAVDTL
Zebrafish RNIASIRQVLRSLSIP-EYV PPTSSGEDK----ETQKISSI
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
28 – 193 Erythropoietin
153 – 153 O-linked (GalNAc...) serine
34 – 188
127 – 127 S -> E. Decreased erythrocyte proliferation; impaired EPOR dimerization following binding.
141 – 147
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C.; Petousi N.; Bento C.; Cario H.; Copley R.R.; McMullin M.F.; van Wijk R.; Ratcliffe P.J.; Robbins P.A.; Taylor J.C.;
Cited for: INVOLVEMENT IN ECYT5; VARIANTS ECYT5 ASN-70; ARG-84; LEU-114 AND CYS-147; VARIANT GLY-99;
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.