Variant position: 553 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 715 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 WFTRTFAYFRRNAATWKNAV RHNLSLHKCFVRVENVKGAVW
Gorilla WFTRTFAYFRRNAATWKNAV RHNLSLHKCFVRVENVKGAVW
Rhesus macaque WFTRTFAYFRRNAATWKNAV RHNLSLHKCFVRVENVKGAVW
Chimpanzee WFTRTFAYFRRNAATWKNAV RHNLSLHKCFVRVENVKGAVW
Mouse WFTRTFAYFRRNAATWKNAV RHNLSLHKCFVRVENVKGAVW
Rat WFTRTFAYFRRNAATWKNAV RHNLSLHKCFVRVENVKGAVW
Xenopus laevis WFTRTFAYFRRNAATWKNAV RHNLSLHKCFVRVENVKGAVW
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
1 – 715 Forkhead box protein P2
504 – 594 Fork-head
88 – 715 Missing. In isoform 8.
144 – 715 Missing. In isoform 5.
366 – 715 Missing. In isoform 7.
433 – 715 Missing. In isoform 6.
545 – 558
A forkhead-domain gene is mutated in a severe speech and language disorder.
Lai C.S.L.; Fisher S.E.; Hurst J.A.; Vargha-Khadem F.; Monaco A.P.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); ALTERNATIVE SPLICING; VARIANT SPCH1 HIS-553;
De novo TBR1 mutations in sporadic autism disrupt protein functions.
Deriziotis P.; O'Roak B.J.; Graham S.A.; Estruch S.B.; Dimitropoulou D.; Bernier R.A.; Gerdts J.; Shendure J.; Eichler E.E.; Fisher S.E.;
Nat. Commun. 5:4954-4954(2014)
Cited for: INTERACTION WITH TBR1; CHARACTERIZATION OF VARIANT SPCH1 HIS-553;
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.