Variant position: 251 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 414 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 PFFPDLQITDQVALLRLTWS ELFVLNAAQCSMPLHVAPLLA
Mouse PFFPDLQITDQVALLRLTWS ELFVLNAAQCSMPLHVAPLLA
Rat PFFPDLQITDQVALLRLTWS ELFVLNAAQCSMPLHVAPLLA
Bovine PFFPDLQITDQVALLRLTWS ELFVLNAAQCSMPLHVAPLLA
Chicken PFFPDLQITDQVALLRLTWS ELFVLNAAQCSMPLHVAPLLA
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 – 414 COUP transcription factor 2
177 – 403 NR LBD
117 – 414 Interaction with ZFPM2
249 – 249 W -> A. Reduces transcription activation by 50%; when associated with A-250.
250 – 250 S -> A. Reduces transcription activation by 50%; when associated with A-249.
250 – 250 S -> W. Reduces transcription activation by 50%.
238 – 260
Rare variants in NR2F2 cause congenital heart defects in humans.
Al Turki S.; Manickaraj A.K.; Mercer C.L.; Gerety S.S.; Hitz M.P.; Lindsay S.; D'Alessandro L.C.; Swaminathan G.J.; Bentham J.; Arndt A.K.; Low J.; Breckpot J.; Gewillig M.; Thienpont B.; Abdul-Khaliq H.; Harnack C.; Hoff K.; Kramer H.H.; Schubert S.; Siebert R.; Toka O.; Cosgrove C.; Watkins H.; Lucassen A.M.; O'Kelly I.M.; Salmon A.P.; Bu'lock F.A.; Granados-Riveron J.; Setchfield K.; Thornborough C.; Brook J.D.; Mulder B.; Klaassen S.; Bhattacharya S.; Devriendt K.; Fitzpatrick D.F.; Wilson D.I.; Mital S.; Hurles M.E.;
Am. J. Hum. Genet. 94:574-585(2014)
Cited for: VARIANTS CHTD4 GLN-75 INS; VAL-170; ILE-205; ASP-251; TYR-341 AND SER-412; CHARACTERIZATION OF VARIANTS CHTD4 GLN-75 INS; ILE-205 AND TYR-341;
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.