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UniProtKB/Swiss-Prot Q14249: Variant p.Ser12Leu

Endonuclease G, mitochondrial
Gene: ENDOG
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Variant information Variant position: help 12
Type of variant: help LB/B
Residue change: help From Serine (S) to Leucine (L) at position 12 (S12L, p.Ser12Leu).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (L)
BLOSUM score: help -2
Other resources: help


Sequence information Variant position: help 12
Protein sequence length: help 297
Location on the sequence: help MRALRAGLTLA S GAGLGAVVEGWRRRREDARA
Residue conservation: help 
Human                         MRALRAGLTLASGAGLGAVVEGWRRRREDARA

Mouse                         MRALRAGLTLALGAGLGAAAEHWRRREGKA--

Bovine                        MQLLRAGLTLALGAGLGAAAESWWRQRADARA

Caenorhabditis elegans        GTAAIAGISFLAGKYSNDDLPIFRNVQSATNV
Sequence annotation in neighborhood: help
TypePositionsDescription
Transit peptide 1 – 48 Mitochondrion



Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT LEU-12;
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.