Variant position: 1236 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1378 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 VADDDADDEEEALEIPRPLR ALDQTPGSSMDNLDSSVTGKA
Mouse VPDEDADDEEEPLEIPRPLR ALDQTPGSSMDNLDSSVTGKA
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
22 – 1378 Roundabout homolog 2
881 – 1378 Cytoplasmic
1186 – 1378 Missing. In isoform 2.
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
Lu W.; van Eerde A.M.; Fan X.; Quintero-Rivera F.; Kulkarni S.; Ferguson H.; Kim H.-G.; Fan Y.; Xi Q.; Li Q.-G.; Sanlaville D.; Andrews W.; Sundaresan V.; Bi W.; Yan J.; Giltay J.C.; Wijmenga C.; de Jong T.P.V.M.; Feather S.A.; Woolf A.S.; Rao Y.; Lupski J.R.; Eccles M.R.; Quade B.J.; Gusella J.F.; Morton C.C.; Maas R.L.;
Am. J. Hum. Genet. 80:616-632(2007)
Cited for: VARIANTS VUR2 THR-945 AND THR-1236; CHROMOSOMAL TRANSLOCATION WITH PCDH11Y;
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.