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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6PI48: Variant p.Cys152Phe

Aspartate--tRNA ligase, mitochondrial
Gene: DARS2
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Variant information Variant position: help 152
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Phenylalanine (F) at position 152 (C152F, p.Cys152Phe).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (F)
BLOSUM score: help -2
Variant description: help In LBSL.
Other resources: help


Sequence information Variant position: help 152
Protein sequence length: help 645
Location on the sequence: help PKMPTGEIEIKVKTAELLNA C KKLPFEIKNFVKKTEALRLQ
Residue conservation: help 
Human                         PKMPTGEIEIKVKTAELLNACKKLPFEIK-NFVKKTEALRLQ

Mouse                         PKMPTGEIEIKVKTAELLNACKKLPFEIK-DFVKKTEALRL

Rat                           PKMPTGEIEIKAKTAELLNACKKLPFEIK-DFVKKTEALRL

Bovine                        PKMPTGEIEIKVKTAKLLNSCKKLPFEIK-DFMKKTETLRL

Slime mold                    KNMSTGEIEISVDQLQLLNNCVDLPFTVEHDSTAVSEELRL

Baker's yeast                 SNEDADEYEVQLEDITVLNASNKKPAQMQ-DF-KLSAIYPP

Fission yeast                 DRRPGNEFELHVEDVKLLNVAKNLQLFPG-DE-KPGMRIQL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 48 – 645 Aspartate--tRNA ligase, mitochondrial
Mutagenesis 136 – 136 T -> S. No effect on its mitochondria localization.



Literature citations
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Scheper G.C.; van der Klok T.; van Andel R.J.; van Berkel C.G.M.; Sissler M.; Smet J.; Muravina T.I.; Serkov S.V.; Uziel G.; Bugiani M.; Schiffmann R.; Kraegeloh-Mann I.; Smeitink J.A.M.; Florentz C.; Van Coster R.; Pronk J.C.; van der Knaap M.S.;
Nat. Genet. 39:534-539(2007)
Cited for: VARIANTS LBSL GLY-45; PHE-152; HIS-179; LYS-184; LYS-248; GLN-263; VAL-560; PHE-613; VAL-626; GLN-626 AND CYS-629;
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.