UniProtKB/Swiss-Prot Q13315: Variant p.Ser1983Asn

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

1983 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 Serine (S) to Asparagine (N) at position 1983 (S1983N, p.Ser1983Asn). 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 small size and polar (S) to medium size and polar (N) 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
Other resources:

Links to websites of interest for the variant.

Variant rs659243 [ dbSNP | Ensembl ]

Sequence information Variant position:

1983 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:

DKKSMDDQEKRSLAFEEGSQ S TTISSLSEKSKEETGISLQD 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                         DKKSMDDQEK--RSLAFEEGSQSTTISSLSEKSKEETGISLQD

Mouse                         DKKSTDEQEK--RSPTFEEGSQGTTISSLSEKSKEETGISL

Pig                           DKKNMDDQEK--RSPTFEEGSQSTTISSLSEKSKEETGISL

Caenorhabditis elegans        RKRNTMMIDR-------------------TSLDRIDRSQEL

Drosophila                    CSESPKSKADFLDNECFQDGAK-------------------

Baker's yeast                 PNIREMNINT-------------------------------

Fission yeast                 TKTDELDITL-------------------------------

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
Modified residue	1981 – 1981	Phosphoserine; by autocatalysis
Modified residue	1983 – 1983	Phosphoserine
Mutagenesis	1981 – 1981	S -> A. Loss of IR-induced S-1981 autophosphorylation. Reduced correction of cell cycle checkpoint defects and DNA-repair activity. No effect on S-367 nor S-1893 autophosphorylation. No dimer disruption.
Mutagenesis	1981 – 1981	S -> DE. Disrupts the dimer.

Literature citations
Human chromosome 11 DNA sequence and analysis including novel gene identification.
Taylor T.D.; Noguchi H.; Totoki Y.; Toyoda A.; Kuroki Y.; Dewar K.; Lloyd C.; Itoh T.; Takeda T.; Kim D.-W.; She X.; Barlow K.F.; Bloom T.; Bruford E.; Chang J.L.; Cuomo C.A.; Eichler E.; FitzGerald M.G.; Jaffe D.B.; LaButti K.; Nicol R.; Park H.-S.; Seaman C.; Sougnez C.; Yang X.; Zimmer A.R.; Zody M.C.; Birren B.W.; Nusbaum C.; Fujiyama A.; Hattori M.; Rogers J.; Lander E.S.; Sakaki Y.;
Nature 440:497-500(2006)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ASN-1983;

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.