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.
Kozich et al. (2010).
The alleles we analyzed by immunoblot. The original publication and a recent reanalysis were cited.
de Franchis et al. (1994).
Maclean et al. (2002).
Gaustadnes et al. (2002).
de Franchis et al. (1999).
Marble et al. (1994).
Orendae et al. (2004).
Dawson et al. (1997).
Kozich et al. (1993).
Kraus et al. (1999).
Lee et al. (2005).
Urreizti et al. (2006).
Kozich and Kraus (1992).
Hu et al. (1993).
