Sequence information
Variant position: 659 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 828 The length of the canonical sequence.
Location on the sequence:
ILQAFPDMHNSNISKILGSR
W KSMSNQEKQPYYEEQARLSK
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 ILQAFPDMHNSNISKILGSRW KSMSNQEKQPYYEEQARLSK
Mouse ILQAFPDMHNSNISKILGSRW KSMSNQEKQPYYEEQARLSK
Rat ILQAFPDMHNSNISKILGSRW KSMSNQEKQPYYEEQARLSK
Xenopus tropicalis ILQAFPDMHNSNISKILGSRW KAMSNQEKQPYYEEQARLSK
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 – 828
Transcription factor SOX-6
DNA binding
621 – 689
HMG box
Literature citations
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Tolchin D.; Yeager J.P.; Prasad P.; Dorrani N.; Russi A.S.; Martinez-Agosto J.A.; Haseeb A.; Angelozzi M.; Santen G.W.E.; Ruivenkamp C.; Mercimek-Andrews S.; Depienne C.; Kuechler A.; Mikat B.; Ludecke H.J.; Bilan F.; Le Guyader G.; Gilbert-Dussardier B.; Keren B.; Heide S.; Haye D.; Van Esch H.; Keldermans L.; Ortiz D.; Lancaster E.; Krantz I.D.; Krock B.L.; Pechter K.B.; Arkader A.; Medne L.; DeChene E.T.; Calpena E.; Melistaccio G.; Wilkie A.O.M.; Suri M.; Foulds N.; Begtrup A.; Henderson L.B.; Forster C.; Reed P.; McDonald M.T.; McConkie-Rosell A.; Thevenon J.; Le Tanno P.; Coutton C.; Tsai A.C.H.; Stewart S.; Maver A.; Gorazd R.; Pichon O.; Nizon M.; Cogne B.; Isidor B.; Martin-Coignard D.; Stoeva R.; Lefebvre V.; Le Caignec C.;
Am. J. Hum. Genet. 106:830-845(2020)
Cited for: INVOLVEMENT IN TOLCAS; VARIANTS TOLCAS 81-SER--ASN-828 DEL; 93-ARG--ASN-828 DEL; 98-SER--ASN-828 DEL; CYS-161; 240-GLN--ARN-828 DEL; THR-625; ARG-659 AND LEU-766; DEVELOPMENTAL STAGE;
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.