Variant position: 435 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1151 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 KYVKTPEGLKPLDCFYLKLH GVKLEALNQSINIEQSQSDRS
Mouse KYVKTPEGLKPLDCFYLKLH GVKLEALNQSINIEQSQSDRS
Xenopus laevis KYVKTPEGILPIECFFLKLN GVKLEAINQAISIEQSQSDRS
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 – 1151 Myelin regulatory factor
1 – 586 Myelin regulatory factor, N-terminal
1 – 768 Cytoplasmic
250 – 541 NDT80
454 – 454 R -> A. Decreased affinity for DNA.
428 – 437
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H.; Yu L.; Zhou X.; Wynn J.; Zhao H.; Guo Y.; Zhu N.; Kitaygorodsky A.; Hernan R.; Aspelund G.; Lim F.Y.; Crombleholme T.; Cusick R.; Azarow K.; Danko M.E.; Chung D.; Warner B.W.; Mychaliska G.B.; Potoka D.; Wagner A.J.; ElFiky M.; Wilson J.M.; Nickerson D.; Bamshad M.; High F.A.; Longoni M.; Donahoe P.K.; Chung W.K.; Shen Y.;
PLoS Genet. 14:E1007822-E1007822(2018)
Cited for: INVOLVEMENT IN CUGS; VARIANTS CUGS ARG-435; 596-GLN--ASP-1151 DEL; ALA-679 AND HIS-695;
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.