UniProtKB/Swiss-Prot Q96RD7: Variant p.Arg217His

Pannexin-1
Gene: PANX1
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Variant information Variant position:

217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Histidine (H) at position 217 (R217H, p.Arg217His). 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 (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Variant description:

Found in a patient with primary ovarian failure with intellectual disability and sensorineural hearing loss; uncertain significance; no change in glycosylation pattern. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs143240087 [ dbSNP | Ensembl ]

Sequence information Variant position:

217 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:

EQYLKTKKNSNNLIIKYISC R LLTLIIILLACIYLGYYFSL 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                         EQYLKTKKNSNNLIIKYISCRLLTLIIILLACIYLGYYFSL

Mouse                         EQYLKTKKNSSHLIMKYISCRLVTFVVILLACIYLSYYFSL

Rat                           EQYLKTKKNSSHLIMKYISCRLVTFAVVLLACIYLSYYFSL

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 – 426	Pannexin-1
Chain	1 – 379	Caspase-activated pannexin-1
Topological domain	128 – 217	Cytoplasmic
Modified residue	199 – 199	Phosphotyrosine
Disulfide bond	66 – 265
Disulfide bond	84 – 246
Helix	208 – 235

Literature citations
A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction.
Shao Q.; Lindstrom K.; Shi R.; Kelly J.; Schroeder A.; Juusola J.; Levine K.L.; Esseltine J.L.; Penuela S.; Jackson M.F.; Laird D.W.;
J. Biol. Chem. 291:12432-12443(2016)
Cited for: VARIANT HIS-217; CHARACTERIZATION OF VARIANT HIS-217; 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 OZEMA7; VARIANTS OZEMA7 21-THR--PRO-23 DEL; GLU-346; SER-347 AND 392-GLN--CYS-426 DEL; CHARACTERIZATION OF VARIANTS OZEMA7 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.