Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999987604 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:65269047G>AN/A show variant in all transcripts   IGV
HGNC symbol TBC1D30
Ensembl transcript ID ENST00000539867
Genbank transcript ID NM_015279
UniProt peptide Q9Y2I9
alteration type single base exchange
alteration region CDS
DNA changes c.1765G>A
cDNA.2073G>A
g.94459G>A
AA changes V589I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 589
frameshift no
known variant Reference ID: rs939875
databasehomozygous (A/A)heterozygousallele carriers
1000G368346714
ExAC135502637
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1870.008
-0.8350.002
(flanking)2.5640.189
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased94456wt: 0.5767 / mu: 0.6206 (marginal change - not scored)wt: GGGACACCGTAGGGC
mu: GGGACACCATAGGGC		 GACA|ccgt
distance from splice site 267
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      589RTKSHPGCGDTVGLIDEQNEASKT
mutated  all conserved    589RTKSHPGCGDTIGLIDEQNEASK
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000003180  539RTKSHPGCGDTIGL
Fcatus  all identical  ENSFCAG00000007198  475RTKSQLGCGDTVGLIEE
Mmusculus  all identical  ENSMUSG00000052302  590RTKSHLGCGDTVGLIEEQSEGC
Ggallus  all conserved  ENSGALG00000009859  538RAKGQLGYGDTIGL
Trubripes  not conserved  ENSTRUG00000012364  626LGFGDSEERKDDEDEVKR
Drerio  all conserved  ENSDARG00000075281  740RARAQLGFDDSLEAEDDQTDESK
Dmelanogaster  not conserved  FBgn0261928  1301KEDSHESEAATNKK
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000030378  763RAKGELGHGDTIGLIDEQNEVPK
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2286 / 2286
position (AA) of stopcodon in wt / mu AA sequence 762 / 762
position of stopcodon in wt / mu cDNA 2594 / 2594
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 309 / 309
chromosome 12
strand 1
last intron/exon boundary 1807
theoretical NMD boundary in CDS 1448
length of CDS 2286
coding sequence (CDS) position 1765
cDNA position
(for ins/del: last normal base / first normal base)		 2073
gDNA position
(for ins/del: last normal base / first normal base)		 94459
chromosomal position
(for ins/del: last normal base / first normal base)		 65269047
original gDNA sequence snippet ATCCGGGCTGTGGGGACACCGTAGGGCTGATAGATGAGCAG
altered gDNA sequence snippet ATCCGGGCTGTGGGGACACCATAGGGCTGATAGATGAGCAG
original cDNA sequence snippet ATCCGGGCTGTGGGGACACCGTAGGGCTGATAGATGAGCAG
altered cDNA sequence snippet ATCCGGGCTGTGGGGACACCATAGGGCTGATAGATGAGCAG
wildtype AA sequence MRQDKLTGSL RRGGRCLKRQ GGGVGTILSN VLKKRSCISR TAPRLLCTLE PGVDTKLKFT
LEPSLGQNGF QQWYDALKAV ARLSTGIPKE WRRKVWLTLA DHYLHSIAID WDKTMRFTFN
ERSNPDDDSM GIQIVKDLHR TGCSSYCGQE AEQDRVVLKR VLLAYARWNK TVGYCQGFNI
LAALILEVME GNEGDALKIM IYLIDKVLPE SYFVNNLRAL SVDMAVFRDL LRMKLPELSQ
HLDTLQRTAN KESGGGYEPP LTNVFTMQWF LTLFATCLPN QTVLKIWDSV FFEGSEIILR
VSLAIWAKLG EQIECCETAD EFYSTMGRLT QEMLENDLLQ SHELMQTVYS MAPFPFPQLA
ELREKYTYNI TPFPATVKPT SVSGRHSKAR DSDEENDPDD EDAVVNAVGC LGPFSGFLAP
ELQKYQKQIK EPNEEQSLRS NNIAELSPGA INSCRSEYHA AFNSMMMERM TTDINALKRQ
YSRIKKKQQQ QVHQVYIRAD KGPVTSILPS QVNSSPVINH LLLGKKMKMT NRAAKNAVIH
IPGHTGGKIS PVPYEDLKTK LNSPWRTHIR VHKKNMPRTK SHPGCGDTVG LIDEQNEASK
TNGLGAAEAF PSGCTATAGR EGSSPEGSTR RTIEGQSPEP VFGDADVDVS AVQAKLGALE
LNQRDAAAET ELRVHPPCQR HCPEPPSAPE ENKATSKAPQ GSNSKTPIFS PFPSVKPLRK
SATARNLGLY GPTERTPTVH FPQMSRSFSK PGGGNSGTKK R*
mutated AA sequence MRQDKLTGSL RRGGRCLKRQ GGGVGTILSN VLKKRSCISR TAPRLLCTLE PGVDTKLKFT
LEPSLGQNGF QQWYDALKAV ARLSTGIPKE WRRKVWLTLA DHYLHSIAID WDKTMRFTFN
ERSNPDDDSM GIQIVKDLHR TGCSSYCGQE AEQDRVVLKR VLLAYARWNK TVGYCQGFNI
LAALILEVME GNEGDALKIM IYLIDKVLPE SYFVNNLRAL SVDMAVFRDL LRMKLPELSQ
HLDTLQRTAN KESGGGYEPP LTNVFTMQWF LTLFATCLPN QTVLKIWDSV FFEGSEIILR
VSLAIWAKLG EQIECCETAD EFYSTMGRLT QEMLENDLLQ SHELMQTVYS MAPFPFPQLA
ELREKYTYNI TPFPATVKPT SVSGRHSKAR DSDEENDPDD EDAVVNAVGC LGPFSGFLAP
ELQKYQKQIK EPNEEQSLRS NNIAELSPGA INSCRSEYHA AFNSMMMERM TTDINALKRQ
YSRIKKKQQQ QVHQVYIRAD KGPVTSILPS QVNSSPVINH LLLGKKMKMT NRAAKNAVIH
IPGHTGGKIS PVPYEDLKTK LNSPWRTHIR VHKKNMPRTK SHPGCGDTIG LIDEQNEASK
TNGLGAAEAF PSGCTATAGR EGSSPEGSTR RTIEGQSPEP VFGDADVDVS AVQAKLGALE
LNQRDAAAET ELRVHPPCQR HCPEPPSAPE ENKATSKAPQ GSNSKTPIFS PFPSVKPLRK
SATARNLGLY GPTERTPTVH FPQMSRSFSK PGGGNSGTKK R*
speed 1.08 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