Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 3.17773560972929e-06 (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) chr6:116950734G>AN/A show variant in all transcripts   IGV
HGNC symbol RSPH4A
Ensembl transcript ID ENST00000368580
Genbank transcript ID N/A
UniProt peptide Q5TD94
alteration type single base exchange
alteration region CDS
DNA changes c.926G>A
cDNA.926G>A
g.13093G>A
AA changes R309H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 309
frameshift no
known variant Reference ID: rs6927567
databasehomozygous (A/A)heterozygousallele carriers
1000G113800913
ExAC28772010922986
regulatory features Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
SP1, Transcription Factor, SP1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)5.2791
3.7021
(flanking)0.6551
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally decreased13088wt: 0.3542 / mu: 0.3312 (marginal change - not scored)wt: TCTTGCAACATTCATTCCCAGGGTCGCTGTAATTGGTTCAA
mu: TCTTGCAACATTCATTCCCAGGGTCACTGTAATTGGTTCAA		 ccag|GGTC
distance from splice site 5
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      309GVDQELEDEIGRCNWFNSIQKNEE
mutated  not conserved    309QELEDEIGHCNWFNSIQKNE
Ptroglodytes  all identical  ENSPTRG00000018535  556GRCNWFNSIQKNE
Mmulatta  all identical  ENSMMUG00000001805  556GRCNWFNSIQKNE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000039552  308DSELEEEMAESSLPNVME
Ggallus  all identical  ENSGALG00000013281  385GRCVWFNPLQKTE
Trubripes  all identical  ENSTRUG00000007282  324HVQHILPQ--GRCTWLNMVVKKSAHL
Drerio  all identical  ENSDARG00000067606  363HVQHILTQ--GRCVWVNVTKKPVDDV
Dmelanogaster  not conserved  FBgn0034957  549G---EMEEEV----------EEE
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019096  363GRCVWVNTSVKSE
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1410 / 1410
position (AA) of stopcodon in wt / mu AA sequence 470 / 470
position of stopcodon in wt / mu cDNA 1410 / 1410
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 1 / 1
chromosome 6
strand 1
last intron/exon boundary 1176
theoretical NMD boundary in CDS 1125
length of CDS 1410
coding sequence (CDS) position 926
cDNA position
(for ins/del: last normal base / first normal base)		 926
gDNA position
(for ins/del: last normal base / first normal base)		 13093
chromosomal position
(for ins/del: last normal base / first normal base)		 116950734
original gDNA sequence snippet CAACATTCATTCCCAGGGTCGCTGTAATTGGTTCAACTCCA
altered gDNA sequence snippet CAACATTCATTCCCAGGGTCACTGTAATTGGTTCAACTCCA
original cDNA sequence snippet ATTGGAAGATGAAATAGGTCGCTGTAATTGGTTCAACTCCA
altered cDNA sequence snippet ATTGGAAGATGAAATAGGTCACTGTAATTGGTTCAACTCCA
wildtype AA sequence MEDSTSPKQE KENQEELGET RRPWEGKTAA SPQYSEPESS EPLEAKQGPE TGRQSRSSRP
WSPQSRAKTP LGGPAGPETS SPAPVSPREP SSSPSPLAPA RQDLAAPPQS DRTTSVIPEA
GTPYPDPLEQ SSDKRESTPH HTSQSEGNTF QQSQQPKPHL CGRRDVSYNN AKQKELRFDV
FQEEDSNSDY DLQQPAPGGS EVAPSMLEIT IQNAKAYLLK TSSNSGFNLY DHLSNMLTKI
LNERPENAVD IFENISQDVK MAHFSKKFDA LQNENELLPT YEIAEKQKAL FLQGHLEGVD
QELEDEIGRC NWFNSIQKNE EEEEEEDEEK DDSDYIEQEV GLPLLTPISE DLEIQNIPPW
TTRLSSNLIP QYAIAVLQSN LWPGAYAFSN GKKFENFYIG WGHKYSPDNY TPPVPPPVYQ
EYPSGPEITE MDDPSVEEEQ AFRAAQEAVL LAAENEESEE DEDEEDDYD*
mutated AA sequence MEDSTSPKQE KENQEELGET RRPWEGKTAA SPQYSEPESS EPLEAKQGPE TGRQSRSSRP
WSPQSRAKTP LGGPAGPETS SPAPVSPREP SSSPSPLAPA RQDLAAPPQS DRTTSVIPEA
GTPYPDPLEQ SSDKRESTPH HTSQSEGNTF QQSQQPKPHL CGRRDVSYNN AKQKELRFDV
FQEEDSNSDY DLQQPAPGGS EVAPSMLEIT IQNAKAYLLK TSSNSGFNLY DHLSNMLTKI
LNERPENAVD IFENISQDVK MAHFSKKFDA LQNENELLPT YEIAEKQKAL FLQGHLEGVD
QELEDEIGHC NWFNSIQKNE EEEEEEDEEK DDSDYIEQEV GLPLLTPISE DLEIQNIPPW
TTRLSSNLIP QYAIAVLQSN LWPGAYAFSN GKKFENFYIG WGHKYSPDNY TPPVPPPVYQ
EYPSGPEITE MDDPSVEEEQ AFRAAQEAVL LAAENEESEE DEDEEDDYD*
speed 1.01 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