Graphs and statistics for the PPT1 gene
Variant type (DNA level, all public variants)
All public variants (67)
| Unknown | | Deletions | | Indels | | Duplications | | Insertions | | Substitutions |
Deletions
7% Insertions
6% Substitutions
81%
|
Unique public variants (64)
| Unknown | | Deletions | | Indels | | Duplications | | Insertions | | Substitutions |
Deletions
8% Substitutions
81%
|
Variant type (DNA level, all public pathogenic variants)
All public pathogenic variants
|
Unique public pathogenic variants
|
Variant type (Protein level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (67)
| Unknown | | Frameshifts | | In frame deletions | | In frame indels | | In frame duplications | | Missense changes | | Silent changes | | Stop changes |
Unknown
13% Frameshifts
13% Missense changes
46% Silent changes
6% Stop changes
16%
|
Unique public variants (53)
| Unknown | | Frameshifts | | In frame deletions | | In frame indels | | In frame duplications | | Missense changes | | Silent changes | | Stop changes |
Frameshifts
15% Missense changes
55% Stop changes
21%
|
Variant type (Protein level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants
|
Unique public pathogenic variants
|
Variant location (DNA level, all public variants) (note: numbers are sums for all transcripts of this gene)
All public variants (67)
| 3'UTR | | 5'UTR | | Coding | | Intron | | Splice region | | Start codon |
Coding
79% Splice region
13%
|
Unique public variants (64)
| 3'UTR | | 5'UTR | | Coding | | Intron | | Splice region | | Start codon |
Coding
78% Splice region
14%
|
Variant type (DNA level, all public pathogenic variants) (note: numbers are sums for all transcripts of this gene)
All public pathogenic variants
|
Unique public pathogenic variants
|
|
