489 (T>C)

Reference: rCRS (Human mtDNA)
Position: 489
Reference allele: T
Alternate allele: C
Amino Acid Change:
MapLocus : MT-DLOOP2 (Control region)

Sequence:
...ATCAA[T/C]ACAAC... View

Haplogroup Frequencies

Haplogroup Defining: Yes

GnomAD:

Helix Mitochondrial database:

Allele Frequencies

GnomAD
Homoplasmic AF (0.10935226)

Heteroplasmic AF (0.00003549)

Source: gnomAD 3.1

Helix Mitochondrial database
Homoplasmic AF (0.12980208)

Heteroplasmic AF (0.00030615)

Source: Helix Mitochondrial database 20200327

Population Frequencies

African/African American (0.0207)

Amish (0)

Latino/Admixed American (0.178471)

Ashkenazi Jewish (0.0826855)

East Asian (0.550484)

European (Finnish) (0.0630372)

European (non-Finnish) (0.104169)

Other (0.123937)

South Asian (0.556673)

Middle Eastern (0.15)

Source: gnomAD 3.1

Functional Predictions

PhastCons_100V: -
APOGEE: -
MtoolBox: -
MutPred: -

Source: Mitimpact 3D

External Resources

gnomAd
MitoVisualize
Mitomap