Variant position: 124 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 758 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 IQSGPLKISSVSEVMKESKQ PASQLQKQKGDTPASATAPTE
Mouse VQSGPLKISSVSEVMKDSKL PVAQSQKTKGDTPASAAS-TG
Drosophila FKGITKNVNDQIDKVKSGIE TVTS---TVDSVTSKVTGLFG
Baker's yeast HDRPTLFLEDSWDGLKAKSN DLLS-----------------
Fission yeast LGGNRIKVDDSSPKLKQNSN NISK-----------------
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
34 – 758 MICOS complex subunit MIC60
65 – 758 Mitochondrial intermembrane
112 – 112 Phosphoserine
113 – 113 Phosphoserine
Mitofilin is a transmembrane protein of the inner mitochondrial membrane expressed as two isoforms.
Gieffers C.; Korioth F.; Heimann P.; Ungermann C.; Frey J.;
Exp. Cell Res. 232:395-399(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-124;
The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 159-758 (ISOFORM 3); VARIANT SER-124;
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.