Variant position: 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 494 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 GAELSKGQLKTKASHSTSQL SQKLKTTYKASTSKIVSSFKT
Mouse GAELSKGQLKTKASHSTSQL SQKLKTTYKASTSKIVSSFKT
Xenopus laevis GAELSKGQMKTKASHSTSQL SQKLKTTYKASTSKIVSSFKT
Xenopus tropicalis GAELSKGQMKTKASHSTSQL SQKLKTTYKASTSKIVSSFKT
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 – 494 WD repeat-containing protein 37
De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia.
Kanca O.; Andrews J.C.; Lee P.T.; Patel C.; Braddock S.R.; Slavotinek A.M.; Cohen J.S.; Gubbels C.S.; Aldinger K.A.; Williams J.; Indaram M.; Fatemi A.; Yu T.W.; Agrawal P.B.; Vezina G.; Simons C.; Crawford J.; Lau C.C.; Chung W.K.; Markello T.C.; Dobyns W.B.; Adams D.R.; Gahl W.A.; Wangler M.F.; Yamamoto S.; Bellen H.J.; Malicdan M.C.V.;
Am. J. Hum. Genet. 105:413-424(2019)
Cited for: INVOLVEMENT IN NOCGUS; VARIANTS NOCGUS PHE-119; ILE-125; CYS-129 AND ILE-130;
De novo missense variants in WDR37 cause a severe multisystemic syndrome.
Reis L.M.; Sorokina E.A.; Thompson S.; Muheisen S.; Velinov M.; Zamora C.; Aylsworth A.S.; Semina E.V.;
Am. J. Hum. Genet. 105:425-433(2019)
Cited for: SUBCELLULAR LOCATION; INVOLVEMENT IN NOCGUS; VARIANTS NOCGUS PHE-119; ILE-125; CYS-129 AND ILE-130;
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.