MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD v.3.0 Build 21 [
Current LOVD status
]
Register as submitter
|
Log in
View all genes
View all transcripts
View all genomic variants
View all variants affecting transcripts
View all individuals
View all diseases
View all screenings
Submit new data
Transcript #00000320
Transcript name
transcript variant 5
Gene name
TAZ
(tafazzin)
Chromosome
X
Transcript - NCBI ID
NR_024048.1
Transcript - Ensembl ID
-
Protein - NCBI ID
-
Protein - Ensembl ID
-
Protein - Uniprot ID
-
Remarks
-
Variants
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Affects function
: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.
Location
: Location of variant at DNA level; note that the variant location can also be derived from the variant description.
All options:
5' gene flanking
5' UTR
Exon
Intron
3' UTR
3' gene flanking
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
PolyPhen
: Effect of variant, predicted by PolyPhen.
All options:
benign = Benign
possiblyDamaging = Possibly damaging
probablyDamaging = Probably damaging
noPrediction = No prediction
GVS function
: The functional annotation of this position from the Genome Variation Server.
All options:
intergenic
near-gene-5
utr-5
coding
coding-near-splice
coding-synonymous
coding-synonymous-near-splice
codingComplex
codingComplex-near-splice
frameshift
frameshift-near-splice
missense
missense-near-splice
splice-5
intron
splice-3
stop-gained
stop-gained-near-splice
stop-lost
stop-lost-near-splice
utr-3
near-gene-3
Splice distance
: The distance to the nearest splice site.
SIFT
: SIFT Annotation
403 entries on 5 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
« First
Prev
1
2
3
4
5
Next
Last »
Affects function
Location
Exon
DNA change (cDNA)
Protein
PolyPhen
GVS function
Splice distance
SIFT
./.
-
-
n.185del
-
-
-
-
-
./.
-
-
n.186del
-
-
-
-
-
./.
-
-
n.217G>C
-
-
-
-
-
./.
-
-
n.217G>C
-
-
-
-
-
./.
-
-
n.288C>T
-
-
-
-
-
./.
-
-
n.305del
-
-
-
-
-
./.
-
-
n.305del
-
-
-
-
-
+?/+?
-
1/10
n.314_315insG
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.314_315insG
-
-
-
-
-
./.
-
-
n.317G>T
-
-
-
-
-
./.
-
-
n.352C>G
-
-
-
-
-
?/?
-
1/10
n.355G>A
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.355G>A
-
-
-
-
-
+?/+?
-
-
n.357_358del
-
-
-
-
-
./.
-
-
n.357_358del
-
-
-
-
-
?/?
-
1/10
n.366G>T
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.366G>T
-
-
-
-
-
./.
-
-
n.373C>T
-
-
-
-
-
+?/+?
-
-
n.386_388del
-
-
-
-
-
./.
-
-
n.386_388del
-
-
-
-
-
+?/+?
-
1/10
n.387T>A
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.387T>A
-
-
-
-
-
?/?
-
1/10
n.390G>A
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.390G>A
-
-
-
-
-
+?/+?
-
-
n.413+1G>C
p.?
-
splice_donor_variant,non_coding_transcript_variant
-
-
./.
-
-
n.413+1G>C
p.?
-
-
-
-
+?/+?
-
-
n.413+5G>A
p.?
-
-
-
-
./.
-
-
n.413+5G>A
p.?
-
-
-
-
+?/+?
-
-
n.413+5G>C
p.?
-
-
-
-
./.
-
-
n.413+5G>C
p.?
-
-
-
-
+?/+?
-
-
n.413+6T>C
-
-
-
-
-
./.
-
-
n.413+6T>C
-
-
-
-
-
./.
-
-
n.413+28C>T
-
-
-
-
-
+?/+?
-
-
n.414-17C>G
-
-
-
-
-
+?/+?
-
-
n.414-17C>T
-
-
-
-
-
./.
-
-
n.414-17C>T
-
-
-
-
-
./.
-
-
n.414-17C>T
-
-
-
-
-
./.
-
-
n.414-2A>G
p.?
-
-
-
-
+?/+?
-
-
n.414-2A>G
p.?
-
splice_acceptor_variant,non_coding_transcript_variant
-
-
+?/+?
-
-
n.414-1G>C
p.?
-
splice_acceptor_variant,non_coding_transcript_variant
-
-
./.
-
-
n.414-1G>C
p.?
-
-
-
-
./.
-
-
n.422A>G
-
-
-
-
-
?/?
-
2/10
n.422A>G
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.427C>T
-
-
-
-
-
./.
-
-
n.427C>T
-
-
-
-
-
+?/+?
-
-
n.428del
-
-
-
-
-
./.
-
-
n.428del
-
-
-
-
-
./.
-
-
n.431A>C
-
-
-
-
-
?/?
-
2/10
n.431A>C
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
+?/+?
-
-
n.444_456del
-
-
-
-
-
./.
-
-
n.444_456del
-
-
-
-
-
+?/+?
-
-
n.447_448del
-
-
-
-
-
./.
-
-
n.453T>C
-
-
-
-
-
?/?
-
2/10
n.453T>C
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
+/+
-
2/10
n.457C>G
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.457C>G
-
-
-
-
-
./.
-
-
n.457C>G
-
-
-
-
-
./.
-
-
n.461dup
-
-
-
-
-
./.
-
2/10
n.461_462insCT
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.462_466del
-
-
-
-
-
?/?
-
2/10
n.465T>A
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.465T>A
-
-
-
-
-
./.
-
-
n.467G>T
-
-
-
-
-
?/?
-
2/10
n.467G>T
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
?/?
-
2/10
n.474G>T
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.474G>T
-
-
-
-
-
./.
-
-
n.475del
-
-
-
-
-
+?/+?
-
-
n.475del
-
-
-
-
-
./.
-
-
n.489C>T
-
-
-
-
-
?/?
-
2/10
n.489C>T
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.511C>G
-
-
-
-
-
?/?
-
2/10
n.511C>G
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.512C>T
-
-
-
-
-
./.
-
-
n.512C>T
-
-
-
-
-
+?/+?
-
2/10
n.512C>T
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.515T>C
-
-
-
-
-
?/?
-
2/10
n.515T>C
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.520C>A
-
-
-
-
-
?/?
-
2/10
n.520C>A
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
?/?
-
2/10
n.526C>G
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.526C>G
-
-
-
-
-
./.
-
-
n.527G>C
-
-
-
-
-
?/?
-
2/10
n.527G>C
-
-
non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.531C>G
-
-
-
-
-
./.
-
-
n.531del
-
-
-
-
-
+?/+?
-
-
n.531del
-
-
-
-
-
./.
-
-
n.540G>A
-
-
-
-
-
?/?
-
2/10
n.540G>A
-
-
splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.541G>A
-
-
-
-
-
+?/+?
-
2/10
n.541G>A
-
-
splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.542G>A
-
-
-
-
-
?/?
-
2/10
n.542G>A
-
-
splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
./.
-
-
n.542G>A
-
-
-
-
-
./.
-
-
n.542+2T>G
p.?
-
-
-
-
?/?
-
-
n.542+2T>G
p.?
-
splice_donor_variant,non_coding_transcript_variant
-
-
?/?
-
-
n.543-1G>A
p.?
-
splice_acceptor_variant,non_coding_transcript_variant
-
-
?/?
-
-
n.543-1G>C
p.?
-
splice_acceptor_variant,non_coding_transcript_variant
-
-
./.
-
-
n.543-1G>C
p.?
-
-
-
-
./.
-
-
n.543del
-
-
-
-
-
?/?
-
3/10
n.543G>A
-
-
splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant
-
-
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
« First
Prev
1
2
3
4
5
Next
Last »
Powered by
LOVD v.3.0
Build 21
LOVD software ©2004-2018
Leiden University Medical Center