Variant position: 347 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 426 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 DLSLYNLFLEENISEVKSYK CLKVLENIKSSGQGIDPMLLL
Mouse DLSLYNLFLEENISELKSYK CLKVLENIKSNGQGIDPMLLL
Rat DLSLYNLFLEENISELKSYK CLKVLENIKSNGQGIDPMLLL
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 – 426 Pannexin-1
288 – 426 Cytoplasmic
347 – 347 S-nitrosocysteine
338 – 338 N -> Q. Impaired glycosylation; loss of GLY2 form; oocyte death.
343 – 352
Intracellular cysteine 346 is essentially involved in regulating Panx1 channel activity.
Bunse S.; Schmidt M.; Prochnow N.; Zoidl G.; Dermietzel R.;
J. Biol. Chem. 285:38444-38452(2010)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT OOMD7 SER-347;
A pannexin 1 channelopathy causes human oocyte death.
Sang Q.; Zhang Z.; Shi J.; Sun X.; Li B.; Yan Z.; Xue S.; Ai A.; Lyu Q.; Li W.; Zhang J.; Wu L.; Mao X.; Chen B.; Mu J.; Li Q.; Du J.; Sun Q.; Jin L.; He L.; Zhu S.; Kuang Y.; Wang L.;
Sci. Transl. Med. 11:0-0(2019)
Cited for: FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INVOLVEMENT IN OOMD7; VARIANTS OOMD7 21-THR--PRO-23 DEL; GLU-346; SER-347 AND 392-GLN--CYS-426 DEL; CHARACTERIZATION OF VARIANTS OOMD7 21-THR--PRO-23 DEL; GLU-346; SER-347 AND 392-GLN--CYS-426 DEL; MUTAGENESIS OF ASN-255; ASN-338 AND ASN-394; VARIANTS HIS-217 AND VAL-272; CHARACTERIZATION OF VARIANTS HIS-217 AND VAL-272; GLYCOSYLATION;
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.