UniProtKB/Swiss-Prot P24855: Variant p.Arg244Gln

Deoxyribonuclease-1
Gene: DNASE1
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Variant information Variant position:

244 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 Glutamine (Q) at position 244 (R244Q, p.Arg244Gln). 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 (Q) 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
Polymorphism:

At least 6 alleles of DNASE1 are known: DNASE1*1 to DNASE1*6. The sequence shown is that of DNASE1*2. Additional information on the polymorphism described.
Variant description:

In allele DNASE1*1. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1053874 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TTATPTHCAYDRIVVAGMLL R GAVVPDSALPFNFQAAYGLS 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                         TTATPTHCAYDRIVVAGMLLRGAVVPDSALPFNFQAAYGLS

                              TTSTSTHCAYDRIVVAGSQLQHAVVPESAAPFNFQVAYGLS

Mouse                         TTVTSTHCAYDRIVVAGALLQAAVVPNSAVPFDFQAEYGLS

Rat                           TTATSTHCAYDRIVVAGALLQAAVVPSSAVPFDFQAEYRLT

Pig                           TTVSSTHCAYDRIVVAGPLLQRAVVPDSAAPFDFQAAFGLS

Bovine                        TTATSTNCAYDRIVVAGSLLQSSVVPGSAAPFDFQAAYGLS

Rabbit                        TTATSTNCAYDRIVVAGPLLQDAVVPNSAAPFNFQAAYGLS

Sheep                         TTATSTNCAYDRIVVAGSLLQSSVVGPSAVPFDFQAAYGLS

Horse                         TTVKSTHCAYDRIVVAGTLLQEAVVPDSAVPFDFQAAYGLN

Chicken                       TTVTSTDCAYDRIVACGSALRQAVEYGSATVNNFQETLRIQ

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	23 – 282	Deoxyribonuclease-1
Helix	241 – 246

Literature citations
Structure of the human deoxyribonuclease I (DNase I) gene: identification of the nucleotide substitution that generates its classical genetic polymorphism.
Yasuda T.; Kishi K.; Yanagawa Y.; Yoshida A.;
Ann. Hum. Genet. 59:1-15(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-244;

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.