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. 2012 Oct;192(2):759–760.

Corrigendum

PMCID: PMC3454897

Corrigendum

In the article by J. A. Mayfield, M. W. Davies, D. Dimster-Denk, N. Pleskae, S. McCarthy, E. A. Boydston, L. Fink, X. X. Lin, A. S. Narain, M. Meighan, and J. Rine (GENETICS 190: 1309–1323) entitled “Surrogate Genetics and Metabolic Profiling for Characterization of Human Disease Alleles,” the Clinical Response to B6 column of Table 2 contains a systematic naming error. We offer a corrected version of Table 2 with the proper category names replacing those changed in error by the authors during editing. The authors thank S. Harvey Mudd for detecting the inconsistent entries and apologize for any confusion this error has caused.

Table 2 .

Summary of clinical and yeast phenotypes

Mutation Clinical response to B6 Enzyme activity Yeast phenotype and remediation
H65R Nonresponsive Lowa Nonfunctionalb
A69P NA Similar to major allele
P70L NA Intermediate growth, B6 remedial, hem1 rescue
P78R Responsive Meda,c Similar to major allele
G85R Partial response Lowd High growth, B6 and heme remedial
T87N ND Low growthb
P88S ND Low growthb
L101P Variable Lowe Nonfunctional
K102N Responsive Meda,c Similar to major alleleb
K102Q ND Similar to major allele
C109R Variable Lowe Nonfunctionalb
A114V Variable Medf/higha Low growth
G116R Responsive Nonfunctional
R121C ND Nonfunctional
R121L ND Nonfunctional
R121H Nonresponsive Nonfunctional
M126V Nonresponsive Nonfunctionalb
E128D Nonresponsive Similar to major allele
E131D Nonresponsive Lowg Low growthb
G139R Responsive Intermediate growthb
I143M Nonresponsive Lowh Nonfunctional
E144K Variable Lowa,i Nonfunctionalb
P145L Nonresponsive Lowj Nonfunctionalb
G148R Nonresponsive Lowa Nonfunctional
G151R ND Nonfunctionalb
I152M Variable Lowk hem1 rescue
G153R NA Nonfunctional
L154Q NA Lowl Nonfunctional
A155T Variable Low growth, B6 and heme remedial
A155V NA Lowl hem1 rescue
A158V NA Low growth
C165Y Variable Lowa,k Nonfunctional
V168M ND Nonfunctionalb
E176K Nonresponsive Lowa hem1 rescue
V180A Responsive Meda,k Intermediate growth, B6 remedial
T191M Nonresponsive Lowa,k Nonfunctional
D198V Nonresponsive Low growthb
R224H ND Low growth
A226T Responsive Medm Low growthb
N228S Nonresponsive Nonfunctional
N228K Nonresponsive Lowa,d Nonfunctional
D234N Nonresponsive Intermediate growth, heme remedial
E239K Responsive Nonfunctional
T257M Nonresponsive Nonfunctional
G259S ND Nonfunctional
T262M Nonresponsive Low growth, B6 remedial
R266G Nonresponsive Nonfunctional
R266K Responsive Meda High growth, B6 and heme remedial
C275Y Nonresponsive Lowm Nonfunctional
I278T Variable Lowa,n Low growth
A288P NA Nonfunctional
A288T NA Lowl Nonfunctional
P290L Responsive hem1 rescue
E302K Variable Lowf/higha Nonfunctional
G307S Variable Lowa,o Nonfunctionalb
V320A Variable Intermediate growth, B6 and heme remedial
A331E ND Lowi Nonfunctional
A331V ND Low growth
R336H Responsive Lowm hem1 rescue; not tested in liquid media
G347S Responsive Lowe Nonfunctional
S349N Nonresponsive Lowm Nonfunctional
S352N Nonresponsive Low growth
T353M Variable Lowi Low growth, B6 and heme remedial
V354M Nonresponsive High growth, B6 remedial
A355P ND Nonfunctional
A361T Nonresponsive Nonfunctional
R369P NA Nonfunctional
R369H ND Similar to major allele
R369C Responsive Lowk/meda Similar to major allele
C370Y Responsive Nonfunctional
V371M Partial response Lowk Similar to major allele
D376N ND Nonfunctional
R379W ND hem1 rescue
K384E Responsive Nonfunctionalb
K384N Nonresponsive hem1 rescue
M391I Nonresponsive Nonfunctional
P422L Nonresponsive Higha,d Similar to major allele
T434N Responsive High growth, B6 remedial
I435T ND Higha,d Similar to major allele
R439Q Variable Meda Similar to major allele
D444N Variable Higha/medm Similar to major allele
L456P Nonresponsive Lowm Intermediate growth
S466L ND Higha,d Similar to major allele
Q526K Nonresponsive Intermediate growth, hem1 rescueb

Alleles with yeast growth phenotypes inconsistent with clinical (underlined) or in vitro activity (italics) are indicated. Alleles identified in the clinic but without information about B6 response (ND, no data) and alleles identified from available sequence only (NA, not applicable) are indicated. Enzyme activity summarizes several different assays including expression in Escherichia coli or in human fibroblast cell culture. Low indicates activity at or below the level of detection, med indicates an intermediate activity, and high indicates activity indistinguishable from the major allele.

a

Kozich et al. (2010).

b

The alleles we analyzed by immunoblot. The original publication and a recent reanalysis were cited.

c

de Franchis et al. (1994).

d

Maclean et al. (2002).

e

Gaustadnes et al. (2002).

f

de Franchis et al. (1999).

g

Marble et al. (1994).

h

Orendae et al. (2004).

i

Dawson et al. (1997).

j

Kozich et al. (1993).

k

Kraus et al. (1999).

l

Lee et al. (2005).

m

Urreizti et al. (2006).

n

Kozich and Kraus (1992).

o

Hu et al. (1993).


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