Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.429706785897456 (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) chr16:19041595G>AN/A show variant in all transcripts   IGV
HGNC symbol TMC7
Ensembl transcript ID ENST00000304381
Genbank transcript ID NM_024847
UniProt peptide Q7Z402
alteration type single base exchange
alteration region CDS
DNA changes c.761G>A
cDNA.891G>A
g.46340G>A
AA changes G254E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 254
frameshift no
known variant Reference ID: rs28583298
databasehomozygous (A/A)heterozygousallele carriers
1000G8919411832
ExAC23637-145079130
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1350.911
2.4330.91
(flanking)0.2270.652
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 increased46341wt: 0.9690 / mu: 0.9890 (marginal change - not scored)wt: GATGGGGTGAAATTT
mu: GATGAGGTGAAATTT		 TGGG|gtga
Donor gained463380.40mu: ATTGATGAGGTGAAA TGAT|gagg
Donor gained463350.88mu: ACCATTGATGAGGTG CATT|gatg
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      254TSLFYGHYTIDGVKFQNFTYDLPL
mutated  not conserved    254TSLFYGHYTIDEVKFQNFTYDLP
Ptroglodytes  all identical  ENSPTRG00000007827  254TSLFYGHYTIDGVKFQNFTYDLP
Mmulatta  all identical  ENSMMUG00000006911  254TSLFYGHYTIDGVKFQNFTYDLP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000042246  252TSLFYGHYTIDGVKFQSFTYDLP
Ggallus  not conserved  ENSGALG00000006889  218TVLFYGYYTIDAAWFSVLRYNLP
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000031040  223TYLFYGYYTIETVTFYVFNYSLP
protein features
start (aa)end (aa)featuredetails 
241263TOPO_DOMExtracellular (Potential).lost
259259CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
264284TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
285362TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
363383TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
384404TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
405425TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
426494TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
495515TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
516555TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
556576TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
577601TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
602622TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
623665TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
638638CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
666686TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
687723TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2172 / 2172
position (AA) of stopcodon in wt / mu AA sequence 724 / 724
position of stopcodon in wt / mu cDNA 2302 / 2302
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 131 / 131
chromosome 16
strand 1
last intron/exon boundary 2237
theoretical NMD boundary in CDS 2056
length of CDS 2172
coding sequence (CDS) position 761
cDNA position
(for ins/del: last normal base / first normal base)		 891
gDNA position
(for ins/del: last normal base / first normal base)		 46340
chromosomal position
(for ins/del: last normal base / first normal base)		 19041595
original gDNA sequence snippet CGGACATTACACCATTGATGGGGTGAAATTTCAGAACTTCA
altered gDNA sequence snippet CGGACATTACACCATTGATGAGGTGAAATTTCAGAACTTCA
original cDNA sequence snippet CGGACATTACACCATTGATGGGGTGAAATTTCAGAACTTCA
altered cDNA sequence snippet CGGACATTACACCATTGATGAGGTGAAATTTCAGAACTTCA
wildtype AA sequence MSESSGSALQ PGRPSRQPAV HPENLSLDSS CFSSPPVNFL QELPSYRSIA RRRTTVHSRD
KQSGTLLKPT DSYSSQLEDR IAENLSSHSL RNYALNISEK RRLRDIQETQ MKYLSEWDQW
KRYSSKSWKR FLEKAREMTT HLELWREDIR SIEGKFGTGI QSYFSFLRFL VLLNLVIFLI
IFMLVLLPVL LTKYKITNSS FVLIPFKDMD KQCTVYPVSS SGLIYFYSYI IDLLSGTGFL
EETSLFYGHY TIDGVKFQNF TYDLPLAYLL STIASLALSL LWIVKRSVEG FKINLIRSEE
HFQSYCNKIF AGWDFCITNR SMADLKHSSL RYELRADLEE ERMRQKIAER TSEETIRIYS
LRLFLNCIVL AVLGACFYAI YVATVFSQEH MKKEIDKMVF GENLFILYLP SIVITLANFI
TPMIFAKIIR YEDYSPGFEI RLTILRCVFM RLATICVLVF TLGSKITSCD DDTCDLCGYN
QKLYPCWETQ VGQEMYKLMI FDFIIILAVT LFVDFPRKLL VTYCSSCKLI QCWGQQEFAI
PDNVLGIVYG QTICWIGAFF SPLLPAIATL KFIIIFYVKE WSLLYTCRPS PRPFRASNSN
FFFLLVLLIG LCLAIIPLTI SISRIPSSKA CGPFTNFNTT WEVIPKTVST FPSSLQSFIH
GVTSEAFAVP FFMIICLIMF YFIALAGAHK RVVIQLREQL SLESRDKCYL IQKLTEAQRD
MRN*
mutated AA sequence MSESSGSALQ PGRPSRQPAV HPENLSLDSS CFSSPPVNFL QELPSYRSIA RRRTTVHSRD
KQSGTLLKPT DSYSSQLEDR IAENLSSHSL RNYALNISEK RRLRDIQETQ MKYLSEWDQW
KRYSSKSWKR FLEKAREMTT HLELWREDIR SIEGKFGTGI QSYFSFLRFL VLLNLVIFLI
IFMLVLLPVL LTKYKITNSS FVLIPFKDMD KQCTVYPVSS SGLIYFYSYI IDLLSGTGFL
EETSLFYGHY TIDEVKFQNF TYDLPLAYLL STIASLALSL LWIVKRSVEG FKINLIRSEE
HFQSYCNKIF AGWDFCITNR SMADLKHSSL RYELRADLEE ERMRQKIAER TSEETIRIYS
LRLFLNCIVL AVLGACFYAI YVATVFSQEH MKKEIDKMVF GENLFILYLP SIVITLANFI
TPMIFAKIIR YEDYSPGFEI RLTILRCVFM RLATICVLVF TLGSKITSCD DDTCDLCGYN
QKLYPCWETQ VGQEMYKLMI FDFIIILAVT LFVDFPRKLL VTYCSSCKLI QCWGQQEFAI
PDNVLGIVYG QTICWIGAFF SPLLPAIATL KFIIIFYVKE WSLLYTCRPS PRPFRASNSN
FFFLLVLLIG LCLAIIPLTI SISRIPSSKA CGPFTNFNTT WEVIPKTVST FPSSLQSFIH
GVTSEAFAVP FFMIICLIMF YFIALAGAHK RVVIQLREQL SLESRDKCYL IQKLTEAQRD
MRN*
speed 0.46 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