UniProtKB/Swiss-Prot Q14028: Variant p.Arg100His

Cyclic nucleotide-gated cation channel beta-1
Gene: CNGB1
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Variant information Variant position:

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

LB/B 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 100 (R100H, p.Arg100His). 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
Other resources:

Links to websites of interest for the variant.

Variant rs13336595 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1251 The length of the canonical sequence.
Location on the sequence:

TSTISLRAQGAEISEMNSPS R RVLTWLMKGVEKVIPQPVHS 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                         TSTISLRAQGAEISEMNSPSRR-VLTWLMKGVEKVIPQPVHS

Bovine                        TPPTSLQAQVSVAPEAHSSPRGWVLTWLRKGVEKVVPQPAH

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 – 1251	Cyclic nucleotide-gated cation channel beta-1
Alternative sequence	1 – 628	Missing. In isoform RCNC2A.

Literature citations
cDNA, gene structure, and chromosomal localization of human GAR1 (CNCG3L), a homolog of the third subunit of bovine photoreceptor cGMP-gated channel.
Ardell M.D.; Makhija A.K.; Oliveira L.; Miniou P.; Viegas-Pequignot E.; Pittler S.J.;
Genomics 28:32-38(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM GARP2); VARIANT HIS-100; The beta subunit of human rod photoreceptor cGMP-gated cation channel is generated from a complex transcription unit.
Ardell M.D.; Aragon I.; Oliveira L.; Porche G.E.; Burke E.; Pittler S.J.;
FEBS Lett. 389:213-218(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RCNC2B); VARIANT HIS-100; Identification of a domain on the beta-subunit of the rod cGMP-gated cation channel that mediates inhibition by calcium-calmodulin.
Grunwald M.E.; Yu W.P.; Yu H.H.; Yau K.W.;
J. Biol. Chem. 273:9148-9157(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RCNC2B); FUNCTION; VARIANT HIS-100;

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.