In Silico Prediction Analysis of DHX37 Allelic Variants Identified in 46,XY DSD Patients
| Families . | Nucleotide Changed . | AA Changed . | Functional Domain . | In Silico Prediction Tools . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Mutation Taster . | Mutation Assessor . | SIFT . | Polyphen-2 . | PROVEAN . | CADD . | GERP . | ||||
| F1, F2, F6, F7, F8 | c.923G>A | p.Arg308Gln | Helicase ATP binding | Disease cause (score: 0.999) | High functional impact (score: 4.38) | Protein function affected (score 0.001) | Probably damaging (score 1.000) | Deleterious (score −3.93) | 35 | 5.3 |
| F3, F4, F10, F11 | c.2020C>T | p.Arg674Trp | Helicase superfamily C-terminal domain | Disease cause (score 1.000) | Middle functional impact (score: 4.83) | Protein function affected (score 0.001) | Probably damaging (score 1.000) | Deleterious (score −7.42) | 33 | 4.2 |
| F5 | c.1784C>T | p.Ser595Phe | Helicase superfamily C-terminal domain | Disease cause (score: 1.000) | High functional impact (score: 4.26) | Protein function affected (score 0.001) | Benign (score 0.24) | Deleterious (score −5.57) | 24.4 | 4.13 |
| F9 | c.911C>T | p.Thr304Met | Helicase ATP binding | Disease cause (score 1.000) | High functional impact (score: 4.45) | Protein function affected (score 0.001) | Probably damaging (score 1.000) | Deleterious (score −5.89) | 29.8 | 5.3 |
| Families . | Nucleotide Changed . | AA Changed . | Functional Domain . | In Silico Prediction Tools . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Mutation Taster . | Mutation Assessor . | SIFT . | Polyphen-2 . | PROVEAN . | CADD . | GERP . | ||||
| F1, F2, F6, F7, F8 | c.923G>A | p.Arg308Gln | Helicase ATP binding | Disease cause (score: 0.999) | High functional impact (score: 4.38) | Protein function affected (score 0.001) | Probably damaging (score 1.000) | Deleterious (score −3.93) | 35 | 5.3 |
| F3, F4, F10, F11 | c.2020C>T | p.Arg674Trp | Helicase superfamily C-terminal domain | Disease cause (score 1.000) | Middle functional impact (score: 4.83) | Protein function affected (score 0.001) | Probably damaging (score 1.000) | Deleterious (score −7.42) | 33 | 4.2 |
| F5 | c.1784C>T | p.Ser595Phe | Helicase superfamily C-terminal domain | Disease cause (score: 1.000) | High functional impact (score: 4.26) | Protein function affected (score 0.001) | Benign (score 0.24) | Deleterious (score −5.57) | 24.4 | 4.13 |
| F9 | c.911C>T | p.Thr304Met | Helicase ATP binding | Disease cause (score 1.000) | High functional impact (score: 4.45) | Protein function affected (score 0.001) | Probably damaging (score 1.000) | Deleterious (score −5.89) | 29.8 | 5.3 |
Abbreviations: CADD, Combined Annotation Dependent Depletion; GERP, Genomic Evolutionary Rate Profiling; PROVEAN, Protein Variation Effect Analyzer; SIFT, Sorting Intolerant From Tolerant.
In Silico Prediction Analysis of DHX37 Allelic Variants Identified in 46,XY DSD Patients
| Families . | Nucleotide Changed . | AA Changed . | Functional Domain . | In Silico Prediction Tools . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Mutation Taster . | Mutation Assessor . | SIFT . | Polyphen-2 . | PROVEAN . | CADD . | GERP . | ||||
| F1, F2, F6, F7, F8 | c.923G>A | p.Arg308Gln | Helicase ATP binding | Disease cause (score: 0.999) | High functional impact (score: 4.38) | Protein function affected (score 0.001) | Probably damaging (score 1.000) | Deleterious (score −3.93) | 35 | 5.3 |
| F3, F4, F10, F11 | c.2020C>T | p.Arg674Trp | Helicase superfamily C-terminal domain | Disease cause (score 1.000) | Middle functional impact (score: 4.83) | Protein function affected (score 0.001) | Probably damaging (score 1.000) | Deleterious (score −7.42) | 33 | 4.2 |
| F5 | c.1784C>T | p.Ser595Phe | Helicase superfamily C-terminal domain | Disease cause (score: 1.000) | High functional impact (score: 4.26) | Protein function affected (score 0.001) | Benign (score 0.24) | Deleterious (score −5.57) | 24.4 | 4.13 |
| F9 | c.911C>T | p.Thr304Met | Helicase ATP binding | Disease cause (score 1.000) | High functional impact (score: 4.45) | Protein function affected (score 0.001) | Probably damaging (score 1.000) | Deleterious (score −5.89) | 29.8 | 5.3 |
| Families . | Nucleotide Changed . | AA Changed . | Functional Domain . | In Silico Prediction Tools . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Mutation Taster . | Mutation Assessor . | SIFT . | Polyphen-2 . | PROVEAN . | CADD . | GERP . | ||||
| F1, F2, F6, F7, F8 | c.923G>A | p.Arg308Gln | Helicase ATP binding | Disease cause (score: 0.999) | High functional impact (score: 4.38) | Protein function affected (score 0.001) | Probably damaging (score 1.000) | Deleterious (score −3.93) | 35 | 5.3 |
| F3, F4, F10, F11 | c.2020C>T | p.Arg674Trp | Helicase superfamily C-terminal domain | Disease cause (score 1.000) | Middle functional impact (score: 4.83) | Protein function affected (score 0.001) | Probably damaging (score 1.000) | Deleterious (score −7.42) | 33 | 4.2 |
| F5 | c.1784C>T | p.Ser595Phe | Helicase superfamily C-terminal domain | Disease cause (score: 1.000) | High functional impact (score: 4.26) | Protein function affected (score 0.001) | Benign (score 0.24) | Deleterious (score −5.57) | 24.4 | 4.13 |
| F9 | c.911C>T | p.Thr304Met | Helicase ATP binding | Disease cause (score 1.000) | High functional impact (score: 4.45) | Protein function affected (score 0.001) | Probably damaging (score 1.000) | Deleterious (score −5.89) | 29.8 | 5.3 |
Abbreviations: CADD, Combined Annotation Dependent Depletion; GERP, Genomic Evolutionary Rate Profiling; PROVEAN, Protein Variation Effect Analyzer; SIFT, Sorting Intolerant From Tolerant.
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