UniProtKB/Swiss-Prot Q16281: Variant p.Glu228Lys

Cyclic nucleotide-gated cation channel alpha-3
Gene: CNGA3
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Variant information Variant position:

228 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 Glutamate (E) to Lysine (K) at position 228 (E228K, p.Glu228Lys). 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 acidic (E) to large size and basic (K) 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:

In ACHM2; uncertain significance; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; the channel density into the cell membrane is considerably improved by decreasing the cultivation temperature. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs147415641 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

YSADVLYVLDVLVRARTGFL E QGLMVSDTNRLWQHYKTTTQ 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                         YSADVLYVLDVLVRARTGFLEQGLMVSDTNRLWQHYKTTTQ

Mouse                         YSADVLYVLDMLVRARTGFLEQGLMVRDTKRLWKHYTKTLH

Bovine                        YSADILYGMDMLVRARTGFLEQGLMVMDASRLWKHYTQTLH

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 – 694	Cyclic nucleotide-gated cation channel alpha-3
Topological domain	221 – 252	Cytoplasmic

Literature citations
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
Reuter P.; Koeppen K.; Ladewig T.; Kohl S.; Baumann B.; Wissinger B.;
Hum. Mutat. 29:1228-1236(2008)
Cited for: VARIANTS ACHM2 LYS-228; CYS-277; GLN-283; TRP-439; THR-469; LEU-547 AND ARG-557; CHARACTERIZATION OF VARIANTS ACHM2 LYS-228; GLN-283; ARG-291; TRP-439; THR-469; LEU-547; ARG-557 AND LYS-590;

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.