Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999991 (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) chr13:46946157C>TN/A show variant in all transcripts   IGV
HGNC symbol RUBCNL
Ensembl transcript ID ENST00000534925
Genbank transcript ID N/A
UniProt peptide Q9H714
alteration type single base exchange
alteration region CDS
DNA changes c.49G>A
cDNA.308G>A
g.66169G>A
AA changes G17R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 17
frameshift no
known variant Reference ID: rs1408184
databasehomozygous (T/T)heterozygousallele carriers
1000G54411731717
ExAC90291470923738
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3880.004
-0.0080
(flanking)-0.6130
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 increased66159wt: 0.6242 / mu: 0.6628 (marginal change - not scored)wt: TCTCATCGGGTGTCTCTGCCCACAAGCCCTGGGATTTTGGC
mu: TCTCATCGGGTGTCTCTGCCCACAAGCCCTAGGATTTTGGC		 gccc|ACAA
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      17YSHRVSLPTSPGILATSPYPETDS
mutated  not conserved    17YSHRVSLPTSPRILATSPYPETD
Ptroglodytes  not conserved  ENSPTRG00000005855  152YSHRVSLPTSPRILATSPYPETD
Mmulatta  not conserved  ENSMMUG00000009862  85YSHQVSLPTSPRILVTSPYPETD
Fcatus  not conserved  ENSFCAG00000010241  147KSPQTSVFTSSK--AASSCPEAD
Mmusculus  not conserved  ENSMUSG00000034959  166SLLKNPKTVATSPSPKEG
Ggallus  no alignment  ENSGALG00000016988  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088402  n/a
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 1584 / 1584
position (AA) of stopcodon in wt / mu AA sequence 528 / 528
position of stopcodon in wt / mu cDNA 1843 / 1843
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 1731
theoretical NMD boundary in CDS 1421
length of CDS 1584
coding sequence (CDS) position 49
cDNA position
(for ins/del: last normal base / first normal base)		 308
gDNA position
(for ins/del: last normal base / first normal base)		 66169
chromosomal position
(for ins/del: last normal base / first normal base)		 46946157
original gDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered gDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
original cDNA sequence snippet TGTCTCTGCCCACAAGCCCTGGGATTTTGGCCACCTCCCCA
altered cDNA sequence snippet TGTCTCTGCCCACAAGCCCTAGGATTTTGGCCACCTCCCCA
wildtype AA sequence MVRPGYSHRV SLPTSPGILA TSPYPETDSA FFEPSHLTSA ADEGAVQVSR RTISSNSFSP
EVFVLPVDVE KENAHFYVAD MIISAMEKMK CNILSQQQTE SWSKEVSGLL GSDQPDSEMT
FDTNIKQESG SSTSSYSGYE GCAVLQVSPV TETRTYHDVK EICKCDVDEF VILELGDFND
ITETCSCSCS SSKSVTYEPD FNSAELLAKE LYRVFQKCWI LSVVNSQLAG SLSAAGSIVV
NEECVRKDFE SSMNVVQEIK FKSRIRGTED WAPPRFQIIF NIHPPLKRDL VVAAQNFFCA
GCGTPVEPKF VKRLRYCEYL GKYFCDCCHS YAESCIPARI LMMWDFKKYY VSNFSKQLLD
SIWHQPIFNL LSIGQSLYAK AKELDRVKEI QEQLFHIKKL LKTCRFANSA LKEFEQVPGH
LTDELHLFSL EDLVRIKKGL LAPLLKDILK ASLAHVAGCE LCQGKGFICE FCQNTTVIFP
FQTATCRRCS ACRACFHKQC FQSSECPRCA RITARRKLLE SVASAAT*
mutated AA sequence MVRPGYSHRV SLPTSPRILA TSPYPETDSA FFEPSHLTSA ADEGAVQVSR RTISSNSFSP
EVFVLPVDVE KENAHFYVAD MIISAMEKMK CNILSQQQTE SWSKEVSGLL GSDQPDSEMT
FDTNIKQESG SSTSSYSGYE GCAVLQVSPV TETRTYHDVK EICKCDVDEF VILELGDFND
ITETCSCSCS SSKSVTYEPD FNSAELLAKE LYRVFQKCWI LSVVNSQLAG SLSAAGSIVV
NEECVRKDFE SSMNVVQEIK FKSRIRGTED WAPPRFQIIF NIHPPLKRDL VVAAQNFFCA
GCGTPVEPKF VKRLRYCEYL GKYFCDCCHS YAESCIPARI LMMWDFKKYY VSNFSKQLLD
SIWHQPIFNL LSIGQSLYAK AKELDRVKEI QEQLFHIKKL LKTCRFANSA LKEFEQVPGH
LTDELHLFSL EDLVRIKKGL LAPLLKDILK ASLAHVAGCE LCQGKGFICE FCQNTTVIFP
FQTATCRRCS ACRACFHKQC FQSSECPRCA RITARRKLLE SVASAAT*
speed 1.03 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