Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999994356 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:101287340C>TN/A show variant in all transcripts   IGV
HGNC symbol TMTC4
Ensembl transcript ID ENST00000342624
Genbank transcript ID NM_032813
UniProt peptide Q5T4D3
alteration type single base exchange
alteration region CDS
DNA changes c.1312G>A
cDNA.1571G>A
g.40008G>A
AA changes V438I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 438
frameshift no
known variant Reference ID: rs946837
databasehomozygous (T/T)heterozygousallele carriers
1000G43310841517
ExAC76751741725092
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0280.008
0.7640.007
(flanking)-0.9470.004
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased40011wt: 0.21 / mu: 0.36wt: TCCTCTACCTCCCCAGCGTTGGGTACTGTGTGCTGCTGACT
mu: TCCTCTACCTCCCCAGCATTGGGTACTGTGTGCTGCTGACT		 gttg|GGTA
Acc marginally increased40006wt: 0.4101 / mu: 0.4186 (marginal change - not scored)wt: GCGTGTCCTCTACCTCCCCAGCGTTGGGTACTGTGTGCTGC
mu: GCGTGTCCTCTACCTCCCCAGCATTGGGTACTGTGTGCTGC		 ccag|CGTT
Acc marginally increased40009wt: 0.3237 / mu: 0.3243 (marginal change - not scored)wt: TGTCCTCTACCTCCCCAGCGTTGGGTACTGTGTGCTGCTGA
mu: TGTCCTCTACCTCCCCAGCATTGGGTACTGTGTGCTGCTGA		 gcgt|TGGG
Donor marginally increased40005wt: 0.8341 / mu: 0.8538 (marginal change - not scored)wt: TCCCCAGCGTTGGGT
mu: TCCCCAGCATTGGGT		 CCCA|gcgt
distance from splice site 63
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      438VVAERVLYLPSVGYCVLLTFGFGA
mutated  all conserved    438VVAERVLYLPSIGYCVLLTFGFG
Ptroglodytes  all identical  ENSPTRG00000006004  402VVAERVLYLPSVGYCVLLTFGFG
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000007231  437VVAERVLYLPSAGYCMLLT-GFG
Mmusculus  not conserved  ENSMUSG00000041594  419VVAERVLYLPSAGYCVLLTFGFG
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000011988  419VIAERVLYLSSAGYCLLLAFAFG
Drerio  not conserved  ENSDARG00000020447  416VIAERVLYLSSAGYCLILAYA
Dmelanogaster  all conserved  FBgn0038324  378VIAERTLYVPSIGFCLLSIYGFLYWYD
Celegans  not conserved  F38B6.6  372SIAERVLYLPSAGFCLLCAIIFK
Xtropicalis  all identical  ENSXETG00000020677  417VVAERVLYLPSVGYCVLFTYGYS
protein features
start (aa)end (aa)featuredetails 
441441CONFLICTL -> P (in Ref. 1; BAB55179).might get lost (downstream of altered splice site)
441461TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
448481REPEATTPR 1.might get lost (downstream of altered splice site)
482515REPEATTPR 2.might get lost (downstream of altered splice site)
504504CONFLICTY -> N (in Ref. 1; BAB55179).might get lost (downstream of altered splice site)
517549REPEATTPR 3.might get lost (downstream of altered splice site)
550583REPEATTPR 4.might get lost (downstream of altered splice site)
584617REPEATTPR 5.might get lost (downstream of altered splice site)
619651REPEATTPR 6.might get lost (downstream of altered splice site)
652685REPEATTPR 7.might get lost (downstream of altered splice site)
667667CONFLICTK -> E (in Ref. 1; BAB55179).might get lost (downstream of altered splice site)
686719REPEATTPR 8.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2283 / 2283
position (AA) of stopcodon in wt / mu AA sequence 761 / 761
position of stopcodon in wt / mu cDNA 2542 / 2542
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 260 / 260
chromosome 13
strand -1
last intron/exon boundary 2394
theoretical NMD boundary in CDS 2084
length of CDS 2283
coding sequence (CDS) position 1312
cDNA position
(for ins/del: last normal base / first normal base)		 1571
gDNA position
(for ins/del: last normal base / first normal base)		 40008
chromosomal position
(for ins/del: last normal base / first normal base)		 101287340
original gDNA sequence snippet GTGTCCTCTACCTCCCCAGCGTTGGGTACTGTGTGCTGCTG
altered gDNA sequence snippet GTGTCCTCTACCTCCCCAGCATTGGGTACTGTGTGCTGCTG
original cDNA sequence snippet GTGTCCTCTACCTCCCCAGCGTTGGGTACTGTGTGCTGCTG
altered cDNA sequence snippet GTGTCCTCTACCTCCCCAGCATTGGGTACTGTGTGCTGCTG
wildtype AA sequence MIPNQHNAGA GSHQPAVFRM AVLDTDLDHI LPSSVLPPFW AKLVVGSVAI VCFARSYDGD
FVFDDSEAIV NNKDLQAETP LGDLWHHDFW GSRLSSNTSH KSYRPLTVLT FRINYYLSGG
FHPVGFHVVN ILLHSGISVL MVDVFSVLFG GLQYTSKGRR LHLAPRASLL AALLFAVHPV
HTECVAGVVG RADLLCALFF LLSFLGYCKA FRESNKEGAH SSTFWVLLSI FLGAVAMLCK
EQGITVLGLN AVFDILVIGK FNVLEIVQKV LHKDKSLENL GMLRNGGLLF RMTLLTSGGA
GMLYVRWRIM GTGPPAFTEV DNPASFADSM LVRAVNYNYY YSLNAWLLLC PWWLCFDWSM
GCIPLIKSIS DWRVIALAAL WFCLIGLICQ ALCSEDGHKR RILTLGLGFL VIPFLPASNL
FFRVGFVVAE RVLYLPSVGY CVLLTFGFGA LSKHTKKKKL IAAVVLGILF INTLRCVLRS
GEWRSEEQLF RSALSVCPLN AKVHYNIGKN LADKGNQTAA IRYYREAVRL NPKYVHAMNN
LGNILKERNE LQEAEELLSL AVQIQPDFAA AWMNLGIVQN SLKRFEAAEQ SYRTAIKHRR
KYPDCYYNLG RLYADLNRHV DALNAWRNAT VLKPEHSLAW NNMIILLDNT GNLAQAEAVG
REALELIPND HSLMFSLANV LGKSQKYKES EALFLKAIKA NPNAASYHGN LAVLYHRWGH
LDLAKKHYEI SLQLDPTASG TKENYGLLRR KLELMQKKAV *
mutated AA sequence MIPNQHNAGA GSHQPAVFRM AVLDTDLDHI LPSSVLPPFW AKLVVGSVAI VCFARSYDGD
FVFDDSEAIV NNKDLQAETP LGDLWHHDFW GSRLSSNTSH KSYRPLTVLT FRINYYLSGG
FHPVGFHVVN ILLHSGISVL MVDVFSVLFG GLQYTSKGRR LHLAPRASLL AALLFAVHPV
HTECVAGVVG RADLLCALFF LLSFLGYCKA FRESNKEGAH SSTFWVLLSI FLGAVAMLCK
EQGITVLGLN AVFDILVIGK FNVLEIVQKV LHKDKSLENL GMLRNGGLLF RMTLLTSGGA
GMLYVRWRIM GTGPPAFTEV DNPASFADSM LVRAVNYNYY YSLNAWLLLC PWWLCFDWSM
GCIPLIKSIS DWRVIALAAL WFCLIGLICQ ALCSEDGHKR RILTLGLGFL VIPFLPASNL
FFRVGFVVAE RVLYLPSIGY CVLLTFGFGA LSKHTKKKKL IAAVVLGILF INTLRCVLRS
GEWRSEEQLF RSALSVCPLN AKVHYNIGKN LADKGNQTAA IRYYREAVRL NPKYVHAMNN
LGNILKERNE LQEAEELLSL AVQIQPDFAA AWMNLGIVQN SLKRFEAAEQ SYRTAIKHRR
KYPDCYYNLG RLYADLNRHV DALNAWRNAT VLKPEHSLAW NNMIILLDNT GNLAQAEAVG
REALELIPND HSLMFSLANV LGKSQKYKES EALFLKAIKA NPNAASYHGN LAVLYHRWGH
LDLAKKHYEI SLQLDPTASG TKENYGLLRR KLELMQKKAV *
speed 0.14 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