Variant position: 444 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1336 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 LLENSQLLETKNALNVVKND LIAKVDQLSGEQEVLRGELEA
Mouse LLENSQLLETKNALNVVKND LIAKVDQLSGEQEVLKGELEA
Rat LLENSQLLETKNALNVVKND LIAKVDQLSGEQEVLKGELEA
Drosophila IMENNELLATKNALNIVKDD LIVKVDELTGEVEIVREELNA
Baker's yeast VCDTRDLLD----------- ----VDEVREDESALEEE---
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 – 1336 C-Jun-amino-terminal kinase-interacting protein 3
423 – 458 Leucine zipper-like domain (LZ); essential for its function in axon elongation
440 – 554
251 – 1336 Missing. In isoform 2.
433 – 484
De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies.
Platzer K.; Sticht H.; Edwards S.L.; Allen W.; Angione K.M.; Bonati M.T.; Brasington C.; Cho M.T.; Demmer L.A.; Falik-Zaccai T.; Gamble C.N.; Hellenbroich Y.; Iascone M.; Kok F.; Mahida S.; Mandel H.; Marquardt T.; McWalter K.; Panis B.; Pepler A.; Pinz H.; Ramos L.; Shinde D.N.; Smith-Hicks C.; Stegmann A.P.A.; Stoebe P.; Stumpel C.T.R.M.; Wilson C.; Lemke J.R.; Di Donato N.; Miller K.G.; Jamra R.;
Am. J. Hum. Genet. 104:203-212(2019)
Cited for: INVOLVEMENT IN NEDBA; VARIANTS NEDBA 27-GLU--GLU-1336 DEL; 37-TYR--GLU-1336 DEL; ARG-400; PRO-444; GLN-525; CYS-578; GLN-994 AND CYS-1146;
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.