UniProtKB/SwissProt variant VAR

Inorganic pyrophosphatase 2, mitochondrial
Gene: PPA2
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Variant information Variant position:

172
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glutamate (E) to Lysine (K) at position 172 (E172K, p.Glu172Lys).
Physico-chemical properties:

Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score:

1
Variant description:

In SCFI and SCFAI; loss of function in regulation of mitochondrial membrane potential; decreased inorganic diphosphatase activity.
Other resources:

Variant rs146013446 [ dbSNP | Ensembl ]

Sequence information Variant position:

172
Protein sequence length:

334
Location on the sequence:

PHEKDKSTNCFGDNDPIDVC E IGSKILSCGEVIHVKILGIL
Residue conservation:

Human                         PHEKDKSTNC----FGDNDPIDVCEIGSKILSCGEVIHVKILGIL

Mouse                         PHLRDKSTDC----CGDNDPIDVCEIGSKVLSRGDVVHVKI

Baker's yeast                 PTIEHKLGKCDVALKGDNDPLDCCEIGSDVLEMGSIKKVKV

Fission yeast                 PNVIDSRTKM----KGDGDPLDVCEIGGSIGYIGQIKQVKV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	33 – 334	Inorganic pyrophosphatase 2, mitochondrial
Binding site	164 – 164
Binding site	169 – 169
Binding site	169 – 169
Alternative sequence	54 – 219	Missing. In isoform 4.
Alternative sequence	75 – 176	Missing. In isoform 5.
Alternative sequence	148 – 176	Missing. In isoform 3.

Literature citations
Biallelic PPA2 mutations cause sudden unexpected cardiac arrest in infancy.
Guimier A.; Gordon C.T.; Godard F.; Ravenscroft G.; Oufadem M.; Vasnier C.; Rambaud C.; Nitschke P.; Bole-Feysot C.; Masson C.; Dauger S.; Longman C.; Laing N.G.; Kugener B.; Bonnet D.; Bouvagnet P.; Di Filippo S.; Probst V.; Redon R.; Charron P.; Roetig A.; Lyonnet S.; Dautant A.; de Pontual L.; di Rago J.P.; Delahodde A.; Amiel J.;
Am. J. Hum. Genet. 99:666-673(2016)
Cited for: FUNCTION; INVOLVEMENT IN SCFI; VARIANTS SCFI PRO-61; VAL-94; ILE-106; LYS-172 AND PRO-294; CHARACTERIZATION OF VARIANTS SCFI PRO-61 AND LYS-172; Sudden cardiac death due to deficiency of the mitochondrial inorganic pyrophosphatase PPA2.
Kennedy H.; Haack T.B.; Hartill V.; Matakovic L.; Baumgartner E.R.; Potter H.; Mackay R.; Alston C.L.; O'Sullivan S.; McFarland R.; Connolly G.; Gannon C.; King R.; Mead S.; Crozier I.; Chan W.; Florkowski C.M.; Sage M.; Hoefken T.; Alhaddad B.; Kremer L.S.; Kopajtich R.; Feichtinger R.G.; Sperl W.; Rodenburg R.J.; Minet J.C.; Dobbie A.; Strom T.M.; Meitinger T.; George P.M.; Johnson C.A.; Taylor R.W.; Prokisch H.; Doudney K.; Mayr J.A.;
Am. J. Hum. Genet. 99:674-682(2016)
Cited for: FUNCTION; CATALYTIC ACTIVITY; INVOLVEMENT IN SCFAI; INVOLVEMENT IN SCFI; VARIANTS SCFI LEU-127 AND LEU-167; CHARACTERIZATION OF VARIANT SCFI LEU-167; VARIANTS SCFAI LYS-172 AND LEU-228; CHARACTERIZATION OF VARIANTS SCFAI LYS-172 AND LEU-228; SUBCELLULAR LOCATION;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H2U2: Variant p.Glu172Lys