UniProtKB/Swiss-Prot Q8NFD5: Variant p.Asn1742Ser

AT-rich interactive domain-containing protein 1B
Gene: ARID1B
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Variant information Variant position:

1742 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 Asparagine (N) to Serine (S) at position 1742 (N1742S, p.Asn1742Ser). 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 polar (N) to small size and polar (S) 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:

The poly-Gln region is polymorphic and the number of Gln varies in the population (from 17 to 23). Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs140177120 [ dbSNP | Ensembl ]

Sequence information Variant position:

1742 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2319 The length of the canonical sequence.
Location on the sequence:

TWALDTINILLYDDSTVATF N LSQLSGFLELLVEYFRKCLI 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                         TWALDTINILLYDDSTVATFNLSQLSGFLELLVEYFRKCLI

Mouse                         TWALDTINILLYDDSTVATFNLSQLSGFLELLVEYFRKCLI

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 – 2319	AT-rich interactive domain-containing protein 1B

Literature citations
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
Hoyer J.; Ekici A.B.; Endele S.; Popp B.; Zweier C.; Wiesener A.; Wohlleber E.; Dufke A.; Rossier E.; Petsch C.; Zweier M.; Gohring I.; Zink A.M.; Rappold G.; Schrock E.; Wieczorek D.; Riess O.; Engels H.; Rauch A.; Reis A.;
Am. J. Hum. Genet. 90:565-572(2012)
Cited for: INVOLVEMENT IN CSS1; VARIANTS ALA-94 INS; 128-ALA--ALA-130 DEL; HIS-165; SER-329; 401-GLY-GLY-402 DEL; GLY-402 DEL; 410-GLY-GLY-411 DEL; 416-GLY--GLY-420 DEL; VAL-446; ALA-479; VAL-512; PRO-533 INS; ASN-580; THR-614; GLU-959; LEU-1063; ILE-1175; PRO-1332; GLU-1354; ARG-1386; ASN-1404; SER-1494; LYS-1549; HIS-1589; MET-1656; SER-1742; GLU-1816 DEL; ARG-1856; ASN-1934; ARG-1981; ARG-2037 AND ARG-2246;

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.