Sequence information
Variant position: 580 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 736 The length of the canonical sequence.
Location on the sequence:
EGISRADVIITSGGVSMGEK
D YLKQVLDIDLHAQIHFGRVF
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 EGISRADVIITSGGVSMGEKD YLKQVLDIDLHAQIHFGRVF
Mouse EGISRADVIITSGGVSMGEKD YLKQVLDIDLHAQIHFGRVF
Rat EGISRADVIITSGGVSMGEKD YLKQVLDIDLHAQIHFGRVF
Chicken ERISRADVIITSGGVSMGGKY YLKQVLDIDLHAQIHFGRVF
Slime mold DCSKKSDIIITSGGVSMGHLD LVKPLL--EKIGTVHFGRVN
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
Chain
1 – 736
Gephyrin
Region
326 – 736
MPT adenylyltransferase
Literature citations
A GPHN point mutation leading to molybdenum cofactor deficiency.
Reiss J.; Lenz U.; Aquaviva-Bourdain C.; Joriot-Chekaf S.; Mention-Mulliez K.; Holder-Espinasse M.;
Clin. Genet. 80:598-599(2011)
Cited for: VARIANT MOCODC ALA-580; PATHWAY;
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
Dejanovic B.; Djemie T.; Gruenewald N.; Suls A.; Kress V.; Hetsch F.; Craiu D.; Zemel M.; Gormley P.; Lal D.; Myers C.T.; Mefford H.C.; Palotie A.; Helbig I.; Meier J.C.; De Jonghe P.; Weckhuysen S.; Schwarz G.;
EMBO Mol. Med. 7:1580-1594(2015)
Cited for: VARIANT MOCODC ASP-375; CHARACTERIZATION OF MOCODC VARIANTS ASP-375 AND ALA-580; INTERACTION WITH GABRA3 AND GLRB; SUBCELLULAR LOCATION; SUBUNIT; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;
Disclaimer:
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.