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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BSJ5: Variant p.Cys396Arg

Mitochondrial nucleoid-associated protein 1
Gene: MTNAP1
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Variant information Variant position: help 396
Type of variant: help LB/B
Residue change: help From Cysteine (C) to Arginine (R) at position 396 (C396R, p.Cys396Arg).
Physico-chemical properties: help Change from medium size and polar (C) to large size and basic (R)
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 396
Protein sequence length: help 609
Location on the sequence: help LASLATTFLQEKKAEAQNHH C VPDVKALMESPEGQLSLEPK
Residue conservation: help 
Human                         LASLATTFLQEKKAEAQNHHCVPDVKALMESPEGQLSLEPK

Mouse                         LTSPAVTSTPEENAQFCGQSHVPAITLSVGSVRD--VLEPT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 609 Mitochondrial nucleoid-associated protein 1
Topological domain 1 – 552 Mitochondrial matrix



Literature citations
Identification of a new human cancer-related gene (HLC-8).
Kim J.W.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 377-609 (ISOFORM 1); VARIANTS LEU-356; ASN-395; ARG-396; HIS-420 AND THR-522;
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.