UniProtKB/Swiss-Prot Q9GZX7: Variant p.Arg25Cys

Single-stranded DNA cytosine deaminase
Gene: AICDA
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Variant information Variant position:

25 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 Cysteine (C) at position 25 (R25C, p.Arg25Cys). 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 (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 rs1404944797 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LMNRRKFLYQFKNVRWAKGR R ETYLCYVVKRRDSATSFSLD 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                         LMNRRKFLYQFKNVRWAKGRRETYLCYVVKRRDSATSFSLD

                              LMKQRKFLYHFKNVRWAKGRHETYLCYVVKRRDSATSFSLD

Mouse                         LMKQKKFLYHFKNVRWAKGRHETYLCYVVKRRDSATSCSLD

Bovine                        LKKQRQFLYQFKNVRWAKGRHETYLCYVVKRRDSPTSFSLD

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 – 198	Single-stranded DNA cytosine deaminase
Domain	23 – 129	CMP/dCMP-type deaminase
Region	2 – 26	Interaction with SUPT6H
Motif	1 – 30	Bipartite nuclear localization signal
Modified residue	27 – 27	Phosphothreonine; by PKA
Modified residue	38 – 38	Phosphoserine; by PKA
Mutagenesis	10 – 10	K -> A. Little effect on nuclear import; when associated with A-193. No effect on CTNNBL1 binding.
Mutagenesis	18 – 18	V -> S. Greatly impaired nuclear import; when associated with V-19 and A-193. Reduced interaction with both CTNNBL1 and KPNA1, and abolishes immunoglobulin class switching; when associated with V-19.
Mutagenesis	19 – 19	R -> V. Greatly impaired nuclear import; when associated with S-18 and A-193. Reduced interaction with both CTNNBL1 and KPNA1, and abolishes immunoglobulin class switching; when associated with S-18.
Mutagenesis	20 – 20	W -> K. Impaired nuclear import; when associated with A-193. No effect on CTNNBL1 binding.
Mutagenesis	27 – 27	T -> A. Loss of phosphorylation. No effect on cytidine deaminase activity. Impaired class-switch recombination activity.
Mutagenesis	27 – 27	T -> E. Phosphomimetic mutant which shows loss of cytidine deaminase activity and impaired class-switch recombination activity.
Mutagenesis	38 – 38	S -> A. Loss of phosphorylation. Impaired class-switch recombination activity. No effect on interaction with CTNNBL1.
Mutagenesis	38 – 38	S -> D. No effect on interaction with CTNNBL1.

Literature citations
Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the regulation of total serum IgE levels.
Noguchi E.; Shibasaki M.; Inudou M.; Kamioka M.; Yokouchi Y.; Yamakawa-Kobayashi K.; Hamaguchi H.; Matsui A.; Arinami T.;
J. Allergy Clin. Immunol. 108:382-386(2001)
Cited for: VARIANT CYS-25;

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.