UniProtKB/Swiss-Prot Q00975: Variant p.Arg1389His

Voltage-dependent N-type calcium channel subunit alpha-1B
Gene: CACNA1B
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Variant information Variant position:

1389 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 1389 (R1389H, p.Arg1389His). 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 patients with myoclonus and dystonia; uncertain significance; single-channel currents of the mutant are smaller than wild-type, likely due to channel stabilization in the lower current amplitude open state; voltage-dependent activation and inactivation as well as ion selectivity are unchanged. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs184841813 [ dbSNP | Ensembl ]

Sequence information Variant position:

1389 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2339 The length of the canonical sequence.
Location on the sequence:

MVLKHSVDATYEEQGPSPGY R MELSIFYVVYFVVFPFFFVN 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                         MVLKHSVDATYEEQGPSPGYRMELSIFYVVYFVVFPFFFVN

Mouse                         MVLKHSVDATYEEQGPSPGFRMELSIFYVVYFVVFPFFFVN

Rat                           MVLKHSVDATYEEQGPSPGFRMELSIFYVVYFVVFPFFFVN

Rabbit                        MVLKHSVDATYEEQGPSPGYRMELSIFYVVYFVVFPFFFVN

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 – 2339	Voltage-dependent N-type calcium channel subunit alpha-1B
Topological domain	1304 – 1390	Extracellular
Repeat	1137 – 1419	III
Turn	1386 – 1389

Literature citations
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
Groen J.L.; Andrade A.; Ritz K.; Jalalzadeh H.; Haagmans M.; Bradley T.E.; Jongejan A.; Verbeek D.S.; Nuernberg P.; Denome S.; Hennekam R.C.; Lipscombe D.; Baas F.; Tijssen M.A.;
Hum. Mol. Genet. 24:987-993(2015)
Cited for: VARIANT HIS-1389; CHARACTERIZATION OF VARIANT HIS-1389; The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.
Mencacci N.E.; R'bibo L.; Bandres-Ciga S.; Carecchio M.; Zorzi G.; Nardocci N.; Garavaglia B.; Batla A.; Bhatia K.P.; Pittman A.M.; Hardy J.; Weissbach A.; Klein C.; Gasser T.; Lohmann E.; Wood N.W.;
Hum. Mol. Genet. 24:5326-5329(2015)
Cited for: VARIANT HIS-1389;

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.