UniProtKB/Swiss-Prot Q12791: Variant p.Asn1217Ser

Calcium-activated potassium channel subunit alpha-1
Gene: KCNMA1
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Variant information Variant position:

1217 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 Asparagine (N) to Serine (S) at position 1217 (N1217S, p.Asn1217Ser). 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 medium size and polar (N) to small size and polar (S) 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
Variant description:

Found in patient with epilepsy; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs563967757 [ dbSNP | Ensembl ]

Sequence information Variant position:

1217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1236 The length of the canonical sequence.
Location on the sequence:

QSSSKKSSSVHSIPSTANRQ N RPKSRESRDKQKYVQEERL 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                         QSSSKKSSSVHSI--PSTANRQNRPKSRESRDKQKYVQEERL----------------------------------------------------

Mouse                         QSSSKKSSSVHSI--PSTANRPNRPKSRESRDKQNRKEMV

Rat                           QSSSKKSSSVHSI--PSTANRPNRPKSRESRDKQKKEMVY

Bovine                        QSSSKKSSSVHSI--PSTANRQNRPKSRESRDKQKYVQEE

Rabbit                        QSSSKKSSSVHSI--PSTANRQNRPKSRESRDKQKYVQEE

Chicken                       YSSSKKSSSVHSI--PSTANRPNRTKTRDSREKQKYVQED

Xenopus laevis                HSSSKKSSSVTSILHTASANRQNRVKARDSRDKQKMGQAE

Zebrafish                     HSSSKKSSSVHSI--PATNRQNRSSKAREARDKQNATRMN

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 – 1236	Calcium-activated potassium channel subunit alpha-1
Topological domain	389 – 1236	Cytoplasmic
Region	1186 – 1236	Disordered
Compositional bias	1186 – 1217	Polar residues
Modified residue	1221 – 1221	Phosphoserine
Modified residue	1224 – 1224	Phosphoserine
Alternative sequence	169 – 1236	Missing. In isoform 6.

Literature citations
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.
Li X.; Poschmann S.; Chen Q.; Fazeli W.; Oundjian N.J.; Snoeijen-Schouwenaars F.M.; Fricke O.; Kamsteeg E.J.; Willemsen M.; Wang Q.K.;
Eur. J. Hum. Genet. 26:220-229(2018)
Cited for: FUNCTION; INVOLVEMENT IN EIG16; VARIANT EIG16 SER-1053; CHARACTERIZATION OF VARIANT EIG16 SER-1053; VARIANTS ASN-518; ALA-656 AND SER-1217; CHARACTERIZATION OF VARIANTS ASN-518; ALA-656 AND SER-1217;

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.