Variant position: 114 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:
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 LQSKVVRAKERLDEEL-KI----QA QEDREKGQMPHT----------------
Mouse LQSKVVRAKERLDEEL-RI----QA QEDREKG
Rat LQSKVVRAKERLDEEL-QI----QA QEDREKG
Xenopus tropicalis LQSKVVRAKERLDQEM-DI----QS KTEKPKD
Zebrafish IQSKVVRAKERLDEEL-SINQQQQT KNKHADE
Caenorhabditis elegans LQSKVFRAKERIDEEFGRI----EL KEEKKKE
Drosophila IQSKVFRAKERLDHEI-KAHEQPRS SNTEAAQ
Slime mold LQIKISGAKHCLHSAL--------- KEGKKI-
Baker's yeast LQSKVYRAAERLKWELAQREKNAKA KAGDAST
Fission yeast LQSKVFRAHEKLKSELDQ-----KI QEQSPAK
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 – 125 Mitochondrial import inner membrane translocase subunit TIM16
94 – 94 L -> A. No effect on protein translocation into mitochondria in a heterologous system.
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.
Identification and characterization of Magmas, a novel mitochondria-associated protein involved in granulocyte-macrophage colony-stimulating factor signal transduction.
Jubinsky P.T.; Messer A.; Bender J.; Morris R.E.; Ciraolo G.M.; Witte D.P.; Hawley R.G.; Short M.K.;
Exp. Hematol. 29:1392-1402(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; SUBCELLULAR LOCATION; VARIANT LYS-114;
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.