Variant position: 1233 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1687 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 YRLEAHQSRHTGIGRIPCSS CPQTFGTNSKLRLHRLRVHDK
Mouse YRLEAHQSRHTGVGRIPCSS CPQTFGTNSKLRLHQLRVHDK
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 – 1687 Zinc finger protein 142
1228 – 1251 C2H2-type 18
1242 – 1242 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Khan K.; Zech M.; Morgan A.T.; Amor D.J.; Skorvanek M.; Khan T.N.; Hildebrand M.S.; Jackson V.E.; Scerri T.S.; Coleman M.; Rigbye K.A.; Scheffer I.E.; Bahlo M.; Wagner M.; Lam D.D.; Berutti R.; Havrankova P.; Fecikova A.; Strom T.M.; Han V.; Dosekova P.; Gdovinova Z.; Laccone F.; Jameel M.; Mooney M.R.; Baig S.M.; Jech R.; Davis E.E.; Katsanis N.; Winkelmann J.;
Genet. Med. 0:0-0(2019)
Cited for: INVOLVEMENT IN NEDISHM; VARIANTS NEDISHM 1059-ARG--GLY-1687 DEL; PHE-1233; 1395-LEU--GLY-1687 DEL AND THR-1500;
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.