Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999868 (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) chr1:170928671T>CN/A show variant in all transcripts   IGV
HGNC symbol MROH9
Ensembl transcript ID ENST00000367759
Genbank transcript ID NM_001163629
UniProt peptide Q5TGP6
alteration type single base exchange
alteration region CDS
DNA changes c.221T>C
cDNA.375T>C
g.24060T>C
AA changes V74A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 74
frameshift no
known variant Reference ID: rs2294740
databasehomozygous (C/C)heterozygousallele carriers
1000G2148251039
ExAC35201843621956
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4310.001
0.8270.002
(flanking)0.2690.001
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 increased24061wt: 0.9274 / mu: 0.9799 (marginal change - not scored)wt: CTAGTTGTCATGCCA
mu: CTAGCTGTCATGCCA		 AGTT|gtca
distance from splice site 68
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      74LKIIESSFGMLVVMPSLDKVKEMG
mutated  not conserved    74LKIIESSFGMLAVMPSLDKVKEM
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000013380  n/a
Fcatus  not conserved  ENSFCAG00000003012  50LKIIESSFKKVFSIPSLEKVRQM
Mmusculus  not conserved  ENSMUSG00000071890  74LQIIELSFRKVFSMPSLSTVKAM
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2586 / 2586
position (AA) of stopcodon in wt / mu AA sequence 862 / 862
position of stopcodon in wt / mu cDNA 2740 / 2740
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 155 / 155
chromosome 1
strand 1
last intron/exon boundary 2499
theoretical NMD boundary in CDS 2294
length of CDS 2586
coding sequence (CDS) position 221
cDNA position
(for ins/del: last normal base / first normal base)		 375
gDNA position
(for ins/del: last normal base / first normal base)		 24060
chromosomal position
(for ins/del: last normal base / first normal base)		 170928671
original gDNA sequence snippet GTCATCCTTTGGAATGCTAGTTGTCATGCCAAGTCTTGACA
altered gDNA sequence snippet GTCATCCTTTGGAATGCTAGCTGTCATGCCAAGTCTTGACA
original cDNA sequence snippet GTCATCCTTTGGAATGCTAGTTGTCATGCCAAGTCTTGACA
altered cDNA sequence snippet GTCATCCTTTGGAATGCTAGCTGTCATGCCAAGTCTTGACA
wildtype AA sequence MLTRNPKTKS SLQILQDSVK WHHMAHKVNS LLDAYSGLLS NESMILAVNS SFVDPLLQFE
SQLKIIESSF GMLVVMPSLD KVKEMGSSYE YIEDMENLYH NILNIYENIL TSLVSKDLYK
LQILKEMLVW MSKDSSYLQE RIMVIINKVL RFTVTKVRKY ISVDAPCLGL LAAELSLLCS
HEDPSIVKQA SLGMCHLLYI ARCQNDIGTN KPTNGKSHSL QFPSSDVEFL PKEFQQDESK
IAQRVGQTLL PPLLTDFVQS LLMKLSSPDD KIASDAASIL IFTLEFHAEK VTMVSKIVDA
IYRQLCDNNC MKDVMLQVIT LLTCTSPKKV IFQLMDYPVP ADDTLIQMWK AACSQASVAP
HVLKTILLIL KGKPGEMEDT VTEGKRFSLD ITNLMPLAAC QALCTFLPLG SYRKAVAQYF
PQLLTTLMFQ VFYNSELKPI LKDRALYAQD ALRVLLNCSG LQQVDITLMK ENFWDQLSED
LCYYHGVCFI AKTLSEYNFP QFPETLSYLY KLSVEGPRRS EDTVIVLIFL TELLNNFFKD
PLPEEFLVLF INWINDSNPV VSRLILHRIV HMSPIINKTE NVSSILIAIL DAFLSKDDNV
VLQALLTLRR LLNELDKVTY SLGTRIGSSY CTLMDHINGG IRSMAIRHFG QLVRDMRQYT
WMVNDVVLEG LVPLILFLED DDKRVAEACK YTLKICTSQL KWSTSRLLKD ENYSFEMVVL
NICNNLIISH RNYITDLTSD TLRFLWSPRT YLKRASVILI GYLAKSGGHL LLRDEIEVML
DVIERLLRDE DPMIKQLAEI TYDIFKKKAH KLTSAPLKQN FQKLLKLFYI KKLKPLYNYN
SPNGQIDSPT DSKDVKNDKA L*
mutated AA sequence MLTRNPKTKS SLQILQDSVK WHHMAHKVNS LLDAYSGLLS NESMILAVNS SFVDPLLQFE
SQLKIIESSF GMLAVMPSLD KVKEMGSSYE YIEDMENLYH NILNIYENIL TSLVSKDLYK
LQILKEMLVW MSKDSSYLQE RIMVIINKVL RFTVTKVRKY ISVDAPCLGL LAAELSLLCS
HEDPSIVKQA SLGMCHLLYI ARCQNDIGTN KPTNGKSHSL QFPSSDVEFL PKEFQQDESK
IAQRVGQTLL PPLLTDFVQS LLMKLSSPDD KIASDAASIL IFTLEFHAEK VTMVSKIVDA
IYRQLCDNNC MKDVMLQVIT LLTCTSPKKV IFQLMDYPVP ADDTLIQMWK AACSQASVAP
HVLKTILLIL KGKPGEMEDT VTEGKRFSLD ITNLMPLAAC QALCTFLPLG SYRKAVAQYF
PQLLTTLMFQ VFYNSELKPI LKDRALYAQD ALRVLLNCSG LQQVDITLMK ENFWDQLSED
LCYYHGVCFI AKTLSEYNFP QFPETLSYLY KLSVEGPRRS EDTVIVLIFL TELLNNFFKD
PLPEEFLVLF INWINDSNPV VSRLILHRIV HMSPIINKTE NVSSILIAIL DAFLSKDDNV
VLQALLTLRR LLNELDKVTY SLGTRIGSSY CTLMDHINGG IRSMAIRHFG QLVRDMRQYT
WMVNDVVLEG LVPLILFLED DDKRVAEACK YTLKICTSQL KWSTSRLLKD ENYSFEMVVL
NICNNLIISH RNYITDLTSD TLRFLWSPRT YLKRASVILI GYLAKSGGHL LLRDEIEVML
DVIERLLRDE DPMIKQLAEI TYDIFKKKAH KLTSAPLKQN FQKLLKLFYI KKLKPLYNYN
SPNGQIDSPT DSKDVKNDKA L*
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