Sequence information
Variant position: 76 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 125 The length of the canonical sequence.
Location on the sequence:
LQEAQQILNVSKLSPEEVQK
N YEHLFKVNDKSVGGSFYLQS
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 LQEAQQILNVSK----LSPEEVQKN YEHLFKVNDKSVGGSFYLQS
Mouse LQEAQQILNVSK----LSPEEVQKN YEHLFKVNDKSVGGSF
Rat LQEAQQILNISK----LSPEEVQ-N YEHLFKVNDKSVGDSF
Xenopus tropicalis LQEAQQILNVSK----LTPEEIQKN YEHLFKVNDKEVGGSF
Zebrafish LQEAQQILNIST----LTPEEIQKN YEHLFKVNDKAVGGSF
Caenorhabditis elegans LEESLQILNVKTP---LNREEVEKH YEHLFNINDKSKGGTL
Drosophila LEEAKQILNIDDP---KNVDAITKN YEHLFQVNERSKGGSF
Slime mold PIEARKILGLENVE-TVSKEDIDKK YNELLTINDPKDGGSE
Baker's yeast LDESCKILNIEESKGDLNMDKINNR FNYLFEVNDKEKGGSF
Fission yeast IQEAGSILNIKPES--LEEGELEKR FQKMFEINDPKKGGSF
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
Chain
1 – 125
Mitochondrial import inner membrane translocase subunit TIM16
Region
58 – 110
J-like
Modified residue
69 – 69
Phosphoserine
Mutagenesis
62 – 62
I -> AQW. Substantial loss of protein translocation into mitochondria in a heterologous system.
Mutagenesis
92 – 92
F -> G. Partial loss of protein translocation into mitochondria in a heterologous system. Substantial loss of protein translocation into mitochondria in a heterologous system; when associated with G-93. Partial loss of DNAJC19-binding. Loss of DNAJC19-binding; when associated with G-93. Partial loss of inhibition of DNAJC19 stimulation of HSPA9 ATPase activity. Complete loss of inhibition of DNAJC19 stimulation of HSPA9 ATPase activity; when associated with G-93.
Mutagenesis
93 – 93
Y -> G. Partial loss of protein translocation into mitochondria in a heterologous system. Substantial loss of protein translocation into mitochondria in a heterologous system; when associated with G-92. Loss of DNAJC19-binding; when associated with G-92. Complete loss of inhibition of DNAJC19 stimulation of HSPA9 ATPase activity; when associated with G-92.
Mutagenesis
94 – 94
L -> A. No effect on protein translocation into mitochondria in a heterologous system.
Mutagenesis
94 – 94
L -> Q. Substantial loss of protein translocation into mitochondria in a heterologous system. Substantial loss of DNAJC19-binding. Partial loss of inhibition of DNAJC19 stimulation of HSPA9 ATPase activity.
Literature citations
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.
Mehawej C.; Delahodde A.; Legeai-Mallet L.; Delague V.; Kaci N.; Desvignes J.P.; Kibar Z.; Capo-Chichi J.M.; Chouery E.; Munnich A.; Cormier-Daire V.; Megarbane A.;
PLoS Genet. 10:E1004311-E1004311(2014)
Cited for: INVOLVEMENT IN SMDMDM; VARIANT SMDMDM ASP-76;
Disclaimer:
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.