SitesBLAST

S109 (≠ T50) to W: in D2HGA1; uncertain significance; significant loss of catalytic activity; dbSNP:rs142050154
N127 (≠ V68) to K: in D2HGA1; uncertain significance; complete loss of catalytic activity; dbSNP:rs762857195
G131 (= G72) to V: in D2HGA1; uncertain significance; complete loss of catalytic activity
I147 (= I90) to S: in D2HGA1; uncertain significance; severe phenotype; almost complete loss of catalytic activity; dbSNP:rs121434361
M153 (= M96) to T: in D2HGA1; uncertain significance; significant loss of catalytic activity; to V: in D2HGA1; uncertain significance; significant loss of catalytic activity; dbSNP:rs1432270139
C172 (≠ V115) to Y: in D2HGA1; uncertain significance; moderate reduction in catalytic activity; dbSNP:rs773735172
P189 (= P132) to L: in D2HGA1; uncertain significance; almost complete loss of catalytic activity; dbSNP:rs587783517
A205 (≠ S148) to V: in D2HGA1; uncertain significance; almost complete loss of catalytic activity; dbSNP:rs750889931
A231 (≠ P174) to V: in D2HGA1; uncertain significance; significant loss of catalytic activity
G233 (= G176) to S: in D2HGA1; uncertain significance; no effect on catalytic activity; dbSNP:rs374535734
D375 (≠ N322) to Y: in D2HGA1; uncertain significance; moderate reduction in catalytic activity; dbSNP:rs267606759
R386 (= R333) binding (R)-2-hydroxyglutarate; binding (R)-lactate; binding (R)-malate; mutation to A: Loss of catalytic activity.
T390 (≠ S337) binding (R)-2-hydroxyglutarate; binding (R)-malate; mutation to A: Significantly reduced catalytic activity.
V399 (≠ A346) to M: in D2HGA1; uncertain significance; moderate reduction in catalytic activity; dbSNP:rs746519212
K401 (≠ Q348) binding (R)-2-hydroxyglutarate; binding (R)-malate; mutation to A: Loss of catalytic activity.
R419 (≠ A366) to H: in D2HGA1; uncertain significance; moderate reduction in catalytic activity; dbSNP:rs199908032
A426 (≠ G375) to T: in D2HGA1; uncertain significance; no effect on catalytic activity; dbSNP:rs146578303
H434 (= H383) binding Zn(2+); mutation to A: Loss of catalytic activity.
G436 (= G385) to V: slight reduction in catalytic activity
N439 (= N388) to D: in D2HGA1; uncertain significance; mild phenotype; moderate reduction in catalytic activity; dbSNP:rs121434362
H441 (= H390) binding Zn(2+); mutation to A: Loss of catalytic activity.
N443 (≠ H392) binding (R)-2-hydroxyglutarate; mutation to A: Significantly reduced catalytic activity.
V444 (= V393) to A: in D2HGA1; uncertain significance; severe phenotype; significant reduction in catalytic activity; dbSNP:rs121434360
A446 (= A395) to V: in D2HGA1; uncertain significance; moderate reduction in catalytic activity; dbSNP:rs746956176
E475 (= E431) binding Zn(2+); mutation to A: Loss of catalytic activity.
H476 (= H432) binding (R)-2-hydroxyglutarate; binding (R)-lactate; binding (R)-malate; mutation to A: Loss of catalytic activity.
G477 (= G433) to R: in D2HGA1; uncertain significance; almost complete loss of catalytic activity; dbSNP:rs1453924640

Sites not aligning to the query:

15 R → G: in dbSNP:rs4675887
169:521 natural variant: Missing (in D2HGA1; uncertain significance)
400:521 natural variant: Missing (in D2HGA1; uncertain significance; complete loss of catalytic activity)

P39976 D-2-hydroxyglutarate--pyruvate transhydrogenase DLD3; D-2HG--pyruvate transhydrogenase DLD3; (R)-2-hydroxyglutarate--pyruvate transhydrogenase; D-lactate dehydrogenase [cytochrome] 3; D-lactate ferricytochrome C oxidoreductase; D-LCR; EC 1.1.99.40; EC 1.1.2.4 from Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) (see paper)
32% identity, 94% coverage: 23:473/479 of query aligns to 50:496/496 of P39976

query
sites
P39976

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