Variant position: 244 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 265 The length of the canonical sequence.
Location on the sequence:
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 RNEAKTGADTTAAGPLFQQR PYPSPGAVLRANAEASRTKQQ
Gorilla RNEAKTGADTTAAGPLFQQR PYPSPGAVLRANAEASRTKQQ
Mouse RNEAKTGADTTAAGPLFQQR PYPSPGAVLRANAEASRTKQQ
Rat RNEAKTGADTTAAGPLFQQR PYPSPGAVLRANAEASRSKQQ
Bovine RNEAKTGADTTAAGPLFQQR PYPSPGAVLRANAEASRTKQQ
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
2 – 265 Polyglutamine-binding protein 1
94 – 265 Disordered
247 – 247 Phosphoserine
61 – 265 Missing. In isoform 10.
68 – 265 Missing. In isoform 9.
74 – 265 Missing. In isoform 8.
129 – 265 Missing. In isoform 7.
150 – 265 Missing. In isoform 6.
225 – 265 Missing. In isoform 3.
245 – 245 Y -> D. Abolishes interaction with TXNL4A.
248 – 248 P -> D. Abolishes interaction with TXNL4A.
251 – 251 V -> D. Abolishes interaction with TXNL4A.
252 – 252 L -> D. Abolishes interaction with TXNL4A.
253 – 253 R -> D. Strongly reduces affinity for TXNL4A.
255 – 255 N -> D. Strongly reduces affinity for TXNL4A.
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
D'Gama A.M.; Pochareddy S.; Li M.; Jamuar S.S.; Reiff R.E.; Lam A.T.; Sestan N.; Walsh C.A.;
Cited for: VARIANT LEU-244;
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.