Variant position: 177 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 LRTITADTFRKLFRVYSNFL RGKLKLYTGEA--CRTGDR
Rhesus macaque LRTITADTFCKLFRVYSNFL RGKLKLYTGEA--CRRG
Mouse LRTLTVDTFCKLFRVYANFL RGKLKLYTGEV--CRRG
Rat LRTLTADTFCKLFRVYSNFL RGKLKLYTGEA--CRRG
Pig LRTFAVDTLCKLFRNYSNFL RGKLTLYTGEA--CRRR
Bovine LRAFTVDALSKLFRIYSNFL RGKLTLYTGEA--CRRG
Rabbit LRTVAADTLCKLFRIYSNFL RGKLKLYTGEA--CRRG
Sheep LRIFTVDALSKLFRIYSNFL RGKLTLYTGEA--CRRG
Cat LRTFTVDTLCKLFRIYSNFL RGKLTLYTGEA--CRRG
Horse LRTFAVDTLCKLFRIYSNFL RGKLKLYTGEA--CRRG
Zebrafish -ETQKISSISELFQVHVNFL RGKARLLLANAPVCRQG
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.
Functional selectivity in cytokine signaling revealed through a pathogenic EPO mutation.
Kim A.R.; Ulirsch J.C.; Wilmes S.; Unal E.; Moraga I.; Karakukcu M.; Yuan D.; Kazerounian S.; Abdulhay N.J.; King D.S.; Gupta N.; Gabriel S.B.; Lander E.S.; Patiroglu T.; Ozcan A.; Ozdemir M.A.; Garcia K.C.; Piehler J.; Gazda H.T.; Klein D.E.; Sankaran V.G.;
Cited for: INVOLVEMENT IN DBAL; VARIANT DBAL GLN-177; CHARACTERIZATION OF VARIANT DBAL GLN-177; FUNCTION; MUTAGENESIS OF SER-127;
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.