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UniProtKB/Swiss-Prot Q14994: Variant p.Phe247Ser

Nuclear receptor subfamily 1 group I member 3
Gene: NR1I3
Variant information

Variant position:  247
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 Phenylalanine (F) to Serine (S) at position 247 (F247S, p.Phe247Ser).
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 aromatic (F) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Found in a patient with Kleefstra syndrome; unknown pathological significance.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  247
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  352
The length of the canonical sequence.

Location on the sequence:   EDGARVSPTVGFQVEFLELL  F HFHGTLRKLQLQEPEYVLLA
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                         EDGARVSPTVGFQVEFLELLFHFHGTLRKLQLQEPEYVLLA

Rhesus macaque                EDAARVSPAVGFQVEFLELLFHFHGTLRKLQLQEPEYVLLA

Chimpanzee                    EDGAR----VGFQVEFLELLFHFHGTLRKLQLQEPEYVLLA

Mouse                         EDAVH----AGFQYEFLESILHFHKNLKGLHLQEPEYVLMA

Rat                           EDAVH----VGFQYEFLELIIHFHKTLKRLQLQEPEYALMA

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.

TypePositionsDescription
Chain 1 – 352 Nuclear receptor subfamily 1 group I member 3
Domain 109 – 352 NR LBD
Alternative sequence 232 – 274 VSPTVGFQVEFLELLFHFHGTLRKLQLQEPEYVLLAAMALFSP -> APYLT. In isoform 3.
Alternative sequence 232 – 274 Missing. In isoform 4, isoform 7, isoform 14 and isoform 15.
Helix 240 – 255


Literature citations

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
Kleefstra T.; Kramer J.M.; Neveling K.; Willemsen M.H.; Koemans T.S.; Vissers L.E.; Wissink-Lindhout W.; Fenckova M.; van den Akker W.M.; Kasri N.N.; Nillesen W.M.; Prescott T.; Clark R.D.; Devriendt K.; van Reeuwijk J.; de Brouwer A.P.; Gilissen C.; Zhou H.; Brunner H.G.; Veltman J.A.; Schenck A.; van Bokhoven H.;
Am. J. Hum. Genet. 91:73-82(2012)
Cited for: VARIANT SER-247;

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.