Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000262219
Querying Taster for transcript #2: ENST00000419625
MT speed 3.15 s - this script 5.165834 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ANXA13polymorphism_automatic2.76995946629777e-05simple_aaeR86Hsingle base exchangers2294013show file
ANXA13polymorphism_automatic3.74144453230141e-05simple_aaeR127Hsingle base exchangers2294013show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999972300405337 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:124710729C>TN/A show variant in all transcripts   IGV
HGNC symbol ANXA13
Ensembl transcript ID ENST00000419625
Genbank transcript ID NM_004306
UniProt peptide P27216
alteration type single base exchange
alteration region CDS
DNA changes c.257G>A
cDNA.330G>A
g.38919G>A
AA changes R86H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
86
frameshift no
known variant Reference ID: rs2294013
databasehomozygous (T/T)heterozygousallele carriers
1000G1598541013
ExAC52352229727532
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4090
-0.3080.002
(flanking)2.4850.531
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 71
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      86NFEKTALALLDRPSEYAARQLQKA
mutated  not conserved    86NFEKTALALLDHPSEYAARQLQK
Ptroglodytes  all identical  ENSPTRG00000023152  127NFEKTALALLDRPSEYAARQLQK
Mmulatta  all identical  ENSMMUG00000018008  127NFKKTALALLDRPSEYAARQLQK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000055114  82NFKKTALALLDRPNEYAARQLQK
Ggallus  not conserved  ENSGALG00000016360  89SFEKAVLALLDLPCEYKARELHK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0000083  93KFEDVILALMTPLPQFYAQELHD
Celegans  not conserved  T07C4.9  263DFEDLILALMDAPAIYDAKQLHR
Xtropicalis  all identical  ENSXETG00000023236  86NFEKTALALLDRPCEFDARELRS
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 951 / 951
position (AA) of stopcodon in wt / mu AA sequence 317 / 317
position of stopcodon in wt / mu cDNA 1024 / 1024
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 74 / 74
chromosome 8
strand -1
last intron/exon boundary 905
theoretical NMD boundary in CDS 781
length of CDS 951
coding sequence (CDS) position 257
cDNA position
(for ins/del: last normal base / first normal base)
330
gDNA position
(for ins/del: last normal base / first normal base)
38919
chromosomal position
(for ins/del: last normal base / first normal base)
124710729
original gDNA sequence snippet AGCGTTGGCCCTTCTGGACCGTCCCAGCGAGTACGCCGCCC
altered gDNA sequence snippet AGCGTTGGCCCTTCTGGACCATCCCAGCGAGTACGCCGCCC
original cDNA sequence snippet AGCGTTGGCCCTTCTGGACCGTCCCAGCGAGTACGCCGCCC
altered cDNA sequence snippet AGCGTTGGCCCTTCTGGACCATCCCAGCGAGTACGCCGCCC
wildtype AA sequence MGNRHAKASS PQGFDVDRDA KKLNKACKGM GTNEAAIIEI LSGRTSDERQ QIKQKYKATY
GKELEEVLKS ELSGNFEKTA LALLDRPSEY AARQLQKAMK GLGTDESVLI EVLCTRTNKE
IIAIKEAYQR LFDRSLESDV KGDTSGNLKK ILVSLLQANR NEGDDVDKDL AGQDAKDLYD
AGEGRWGTDE LAFNEVLAKR SYKQLRATFQ AYQILIGKDI EEAIEEETSG DLQKAYLTLV
RCAQDCEDYF AERLYKSMKG AGTDEETLIR IVVTRAEVDL QGIKAKFQEK YQKSLSDMVR
SDTSGDFRKL LVALLH*
mutated AA sequence MGNRHAKASS PQGFDVDRDA KKLNKACKGM GTNEAAIIEI LSGRTSDERQ QIKQKYKATY
GKELEEVLKS ELSGNFEKTA LALLDHPSEY AARQLQKAMK GLGTDESVLI EVLCTRTNKE
IIAIKEAYQR LFDRSLESDV KGDTSGNLKK ILVSLLQANR NEGDDVDKDL AGQDAKDLYD
AGEGRWGTDE LAFNEVLAKR SYKQLRATFQ AYQILIGKDI EEAIEEETSG DLQKAYLTLV
RCAQDCEDYF AERLYKSMKG AGTDEETLIR IVVTRAEVDL QGIKAKFQEK YQKSLSDMVR
SDTSGDFRKL LVALLH*
speed 1.51 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999962585554677 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:124710729C>TN/A show variant in all transcripts   IGV
HGNC symbol ANXA13
Ensembl transcript ID ENST00000262219
Genbank transcript ID NM_001003954
UniProt peptide P27216
alteration type single base exchange
alteration region CDS
DNA changes c.380G>A
cDNA.448G>A
g.38919G>A
AA changes R127H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
127
frameshift no
known variant Reference ID: rs2294013
databasehomozygous (T/T)heterozygousallele carriers
1000G1598541013
ExAC52352229727532
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4090
-0.3080.002
(flanking)2.4850.531
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 71
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      127NFEKTALALLDRPSEYAARQLQKA
mutated  not conserved    127ALALLDHPSEYAARQLQK
Ptroglodytes  all identical  ENSPTRG00000023152  127ALALLDRPSEYAARQLQK
Mmulatta  all identical  ENSMMUG00000018008  127ALALLDRPSEYAARQLQK
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000055114  82NFKKTALALLDRPNEYAARQLQK
Ggallus  not conserved  ENSGALG00000016360  89SFEKAVLALLDLPCEYKARELHK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0000083  93KFEDVILALMTPLPQFYAQELHD
Celegans  not conserved  T07C4.9  263DFEDLILALMDAPAIYDAKQLHR
Xtropicalis  all identical  ENSXETG00000023236  86NFEKTALALLDRPCEFDARELRS
protein features
start (aa)end (aa)featuredetails 
95155REPEATAnnexin 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1074 / 1074
position (AA) of stopcodon in wt / mu AA sequence 358 / 358
position of stopcodon in wt / mu cDNA 1142 / 1142
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 69 / 69
chromosome 8
strand -1
last intron/exon boundary 1023
theoretical NMD boundary in CDS 904
length of CDS 1074
coding sequence (CDS) position 380
cDNA position
(for ins/del: last normal base / first normal base)
448
gDNA position
(for ins/del: last normal base / first normal base)
38919
chromosomal position
(for ins/del: last normal base / first normal base)
124710729
original gDNA sequence snippet AGCGTTGGCCCTTCTGGACCGTCCCAGCGAGTACGCCGCCC
altered gDNA sequence snippet AGCGTTGGCCCTTCTGGACCATCCCAGCGAGTACGCCGCCC
original cDNA sequence snippet AGCGTTGGCCCTTCTGGACCGTCCCAGCGAGTACGCCGCCC
altered cDNA sequence snippet AGCGTTGGCCCTTCTGGACCATCCCAGCGAGTACGCCGCCC
wildtype AA sequence MGNRHSQSYT LSEGSQQLPK GDSQPSTVVQ PLSHPSRNGE PEAPQPAKAS SPQGFDVDRD
AKKLNKACKG MGTNEAAIIE ILSGRTSDER QQIKQKYKAT YGKELEEVLK SELSGNFEKT
ALALLDRPSE YAARQLQKAM KGLGTDESVL IEVLCTRTNK EIIAIKEAYQ RLFDRSLESD
VKGDTSGNLK KILVSLLQAN RNEGDDVDKD LAGQDAKDLY DAGEGRWGTD ELAFNEVLAK
RSYKQLRATF QAYQILIGKD IEEAIEEETS GDLQKAYLTL VRCAQDCEDY FAERLYKSMK
GAGTDEETLI RIVVTRAEVD LQGIKAKFQE KYQKSLSDMV RSDTSGDFRK LLVALLH*
mutated AA sequence MGNRHSQSYT LSEGSQQLPK GDSQPSTVVQ PLSHPSRNGE PEAPQPAKAS SPQGFDVDRD
AKKLNKACKG MGTNEAAIIE ILSGRTSDER QQIKQKYKAT YGKELEEVLK SELSGNFEKT
ALALLDHPSE YAARQLQKAM KGLGTDESVL IEVLCTRTNK EIIAIKEAYQ RLFDRSLESD
VKGDTSGNLK KILVSLLQAN RNEGDDVDKD LAGQDAKDLY DAGEGRWGTD ELAFNEVLAK
RSYKQLRATF QAYQILIGKD IEEAIEEETS GDLQKAYLTL VRCAQDCEDY FAERLYKSMK
GAGTDEETLI RIVVTRAEVD LQGIKAKFQE KYQKSLSDMV RSDTSGDFRK LLVALLH*
speed 1.64 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems