UniProtKB/Swiss-Prot Q13315: Variant p.Arg2227Cys

Serine-protein kinase ATM
Gene: ATM
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Variant information Variant position:

2227 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 Cysteine (C) at position 2227 (R2227C, p.Arg2227Cys). 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
Variant description:

In AT; uncertain significance; reduces protein abundance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs564652222 [ dbSNP | Ensembl ]

Sequence information Variant position:

2227 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

3056 The length of the canonical sequence.
Location on the sequence:

KHSQLLKDSDFSFQEPIMAL R TVILEILMEKEMDNSQRECI 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                         KHSQLLKDSDFSFQEPIMALRTVILEIL-MEKEMDNSQRECI

Mouse                         KHSQLLKDSDFSFQEPLMALRTVILETL-VQKEMERSQGAC

Pig                           KHSQLLKDSDFSFQEPIMALRTVILEIL-MEKEMENSQREC

Caenorhabditis elegans        IANATASFEPQSVEEHVVRAVRELRETSNRRKSGGNVKGIN

Drosophila                    TELE-LKYGNFSCKEYVIAHQIALLKLA-GTRASRRMSEFY

Baker's yeast                 ADKERLNTIDFYDHKTTLKSRHTLMNVL-SRNSLDENVK-C

Fission yeast                 KENKQMSSQLHECFQLLLEIRNVLLSLLQSHKQLDLSDD--

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	2 – 3056	Serine-protein kinase ATM
Domain	1940 – 2566	FAT
Helix	2217 – 2236

Literature citations
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N.; Platzer M.; Rosenthal A.; Doerk T.; Bendix R.; Skawran B.; Stuhrmann M.; Wegner R.-D.; Sperling K.; Banin S.; Shiloh Y.; Baumer A.; Bernthaler U.; Sennefelder H.; Brohm M.; Weber B.H.F.; Schindler D.;
Hum. Mol. Genet. 8:69-79(1999)
Cited for: VARIANTS AT SER-570; CYS-785; GLY-1913; GLY-2016; ASP-2067; CYS-2227; ASP-2470; VAL-2662 DEL; PRO-2849 AND ARG-2867; VARIANTS CYS-49; LEU-858; ARG-1054; ASN-1853 AND VAL-1853; Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
Becker-Catania S.G.; Chen G.; Hwang M.J.; Wang Z.; Sun X.; Sanal O.; Bernatowska-Matuszkiewicz E.; Chessa L.; Lee E.Y.-H.P.; Gatti R.A.;
Mol. Genet. Metab. 70:122-133(2000)
Cited for: VARIANTS AT 35-ARG--VAL-3056 DEL; CYS-49; LEU-292; 393-TRP--VAL-3056 DEL; LEU-1082; 1171-GLN--VAL-3056 DEL; 1839-GLN--VAL-3056 DEL; GLU-2063; CYS-2227; 2246-CYS--THR-2252 DELINS HIS; 2547-ARG--SER-2549 DEL; GLU-2625 AND PRO-2626;

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.