Variant position: 1111 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1342 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 RRHMLTHTKEKPFACHLCGQ RFNRNGHLKFHIQRLHSPDGR
Mouse RRHMLTHTNEKPFSCHVCGQ RFNRNGHLKFHIQRLHSIDGR
Rat RRHMLTHTNEKPFSCHVCGQ RFNRNGHLKFHIQRLHSIDGR
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 – 1342 Zinc finger protein 335
1103 – 1126 C2H2-type 13
1041 – 1342 Involved in the interaction with CCAR2
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.
Yang Y.J.; Baltus A.E.; Mathew R.S.; Murphy E.A.; Evrony G.D.; Gonzalez D.M.; Wang E.P.; Marshall-Walker C.A.; Barry B.J.; Murn J.; Tatarakis A.; Mahajan M.A.; Samuels H.H.; Shi Y.; Golden J.A.; Mahajnah M.; Shenhav R.; Walsh C.A.;
Cited for: VARIANT MCPH10 HIS-1111; CHARACTERIZATION OF VARIANT MCPH10 HIS-1111; FUNCTION IN NEUROGENESIS; INTERACTION WITH ASCL2; CXXC1; KMT2A/MLL1; MKI67; RBBP5; SETD1A AND WDR5; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE;
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.