Home  |  Contact

UniProtKB/Swiss-Prot Q96RD7: Variant p.Lys346Glu

Pannexin-1
Gene: PANX1
Variant information

Variant position:  346
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Lysine (K) to Glutamate (E) at position 346 (K346E, p.Lys346Glu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (K) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Oocyte maturation defect 7 (OOMD7) [MIM:618550]: An autosomal dominant infertility disorder due to oocyte degeneration and death, which may occur before or after fertilization. {ECO:0000269|PubMed:20829356, ECO:0000269|PubMed:30918116}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In OOMD7; impaired glycosylation resulting in the absence of GLY2 and the accumulation of GLY1 forms, associated with increased hemi-channel activity.
Any additional useful information about the variant.



Sequence information

Variant position:  346
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:   NDLSLYNLFLEENISEVKSY  K CLKVLENIKSSGQGIDPMLL
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                         NDLSLYNLFLEENISEVKSYKCLKVLENIKSSGQGIDPMLL

Mouse                         NDLSLYNLFLEENISELKSYKCLKVLENIKSNGQGIDPMLL

Rat                           NDLSLYNLFLEENISELKSYKCLKVLENIKSNGQGIDPMLL

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.

TypePositionsDescription
Chain 1 – 426 Pannexin-1
Topological domain 288 – 426 Cytoplasmic
Modified residue 347 – 347 S-nitrosocysteine
Mutagenesis 338 – 338 N -> Q. Impaired glycosylation; loss of GLY2 form; oocyte death.
Helix 343 – 352


Literature citations

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;

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.