Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (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) chr14:94756794T>CN/A show variant in all transcripts   IGV
HGNC symbol SERPINA10
Ensembl transcript ID ENST00000554723
Genbank transcript ID NM_016186
UniProt peptide Q9UK55
alteration type single base exchange
alteration region CDS
DNA changes c.257A>G
cDNA.676A>G
g.2815A>G
AA changes K86R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 86
frameshift no
known variant Reference ID: rs941590
databasehomozygous (C/C)heterozygousallele carriers
1000G10849772061
ExAC15536169517231
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5640
-0.3750
(flanking)-2.0530
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased2814wt: 0.41 / mu: 0.92wt: CTCCCAAGGAGGAAG
mu: CTCCCAGGGAGGAAG		 CCCA|agga
distance from splice site 187
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      86QNQTSRVVQAPKEEEEDEQEASEE
mutated  all conserved    86QNQTSRVVQAPREEEEDEQEASE
Ptroglodytes  all conserved  ENSPTRG00000006677  46QNQTSRVVQAPREEEEDEQEASE
Mmulatta  all conserved  ENSMMUG00000007307  46QNQTGGVVQAPREEEEDEEEASE
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000061947  46ENQTWEEYTRTDPREEEEEE
Ggallus  no alignment  ENSGALG00000020391  n/a
Trubripes  no alignment  ENSTRUG00000006038  n/a
Drerio  no alignment  ENSDARG00000005924  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000010316  n/a
protein features
start (aa)end (aa)featuredetails 
6293HELIXlost
98100STRANDmight get lost (downstream of altered splice site)
102112HELIXmight get lost (downstream of altered splice site)
113115TURNmight get lost (downstream of altered splice site)
119127HELIXmight get lost (downstream of altered splice site)
137139HELIXmight get lost (downstream of altered splice site)
140154HELIXmight get lost (downstream of altered splice site)
156158STRANDmight get lost (downstream of altered splice site)
160169STRANDmight get lost (downstream of altered splice site)
176186HELIXmight get lost (downstream of altered splice site)
180180CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
188193STRANDmight get lost (downstream of altered splice site)
195197STRANDmight get lost (downstream of altered splice site)
197197CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
198212HELIXmight get lost (downstream of altered splice site)
213215TURNmight get lost (downstream of altered splice site)
216218STRANDmight get lost (downstream of altered splice site)
230239STRANDmight get lost (downstream of altered splice site)
242244STRANDmight get lost (downstream of altered splice site)
248250HELIXmight get lost (downstream of altered splice site)
252259STRANDmight get lost (downstream of altered splice site)
262280STRANDmight get lost (downstream of altered splice site)
281284TURNmight get lost (downstream of altered splice site)
285292STRANDmight get lost (downstream of altered splice site)
293295TURNmight get lost (downstream of altered splice site)
295295CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
296303STRANDmight get lost (downstream of altered splice site)
305307STRANDmight get lost (downstream of altered splice site)
309312HELIXmight get lost (downstream of altered splice site)
313315HELIXmight get lost (downstream of altered splice site)
318326HELIXmight get lost (downstream of altered splice site)
329338STRANDmight get lost (downstream of altered splice site)
340347STRANDmight get lost (downstream of altered splice site)
349354HELIXmight get lost (downstream of altered splice site)
359361HELIXmight get lost (downstream of altered splice site)
368370TURNmight get lost (downstream of altered splice site)
381390STRANDmight get lost (downstream of altered splice site)
396398STRANDmight get lost (downstream of altered splice site)
408408MUTAGENY->A: Loss of inhibitory activity.might get lost (downstream of altered splice site)
408409SITEReactive bond (By similarity).might get lost (downstream of altered splice site)
413415STRANDmight get lost (downstream of altered splice site)
420426STRANDmight get lost (downstream of altered splice site)
427429TURNmight get lost (downstream of altered splice site)
432439STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1455 / 1455
position (AA) of stopcodon in wt / mu AA sequence 485 / 485
position of stopcodon in wt / mu cDNA 1874 / 1874
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 420 / 420
chromosome 14
strand -1
last intron/exon boundary 1683
theoretical NMD boundary in CDS 1213
length of CDS 1455
coding sequence (CDS) position 257
cDNA position
(for ins/del: last normal base / first normal base)		 676
gDNA position
(for ins/del: last normal base / first normal base)		 2815
chromosomal position
(for ins/del: last normal base / first normal base)		 94756794
original gDNA sequence snippet CAGGGTAGTGCAGGCTCCCAAGGAGGAAGAGGAAGATGAGC
altered gDNA sequence snippet CAGGGTAGTGCAGGCTCCCAGGGAGGAAGAGGAAGATGAGC
original cDNA sequence snippet CAGGGTAGTGCAGGCTCCCAAGGAGGAAGAGGAAGATGAGC
altered cDNA sequence snippet CAGGGTAGTGCAGGCTCCCAGGGAGGAAGAGGAAGATGAGC
wildtype AA sequence MSRSTQELLG YHCRLQDKLQ EQEGSLAAEG RHSLASAADH MKVVPSLLLS VLLAQVWLVP
GLAPSPQSPE TPAPQNQTSR VVQAPKEEEE DEQEASEEKA SEEEKAWLMA SRQQLAKETS
NFGFSLLRKI SMRHDGNMVF SPFGMSLAMT GLMLGATGPT ETQIKRGLHL QALKPTKPGL
LPSLFKGLRE TLSRNLELGL TQGSFAFIHK DFDVKETFFN LSKRYFDTEC VPMNFRNASQ
AKRLMNHYIN KETRGKIPKL FDEINPETKL ILVDYILFKG KWLTPFDPVF TEVDTFHLDK
YKTIKVPMMY GAGKFASTFD KNFRCHVLKL PYQGNATMLV VLMEKMGDHL ALEDYLTTDL
VETWLRNMKT RNMEVFFPKF KLDQKYEMHE LLRQMGIRRI FSPFADLSEL SATGRNLQVS
RVLQRTVIEV DERGTEAVAG ILSEITAYSM PPVIKVDRPF HFMIYEETSG MLLFLGRVVN
PTLL*
mutated AA sequence MSRSTQELLG YHCRLQDKLQ EQEGSLAAEG RHSLASAADH MKVVPSLLLS VLLAQVWLVP
GLAPSPQSPE TPAPQNQTSR VVQAPREEEE DEQEASEEKA SEEEKAWLMA SRQQLAKETS
NFGFSLLRKI SMRHDGNMVF SPFGMSLAMT GLMLGATGPT ETQIKRGLHL QALKPTKPGL
LPSLFKGLRE TLSRNLELGL TQGSFAFIHK DFDVKETFFN LSKRYFDTEC VPMNFRNASQ
AKRLMNHYIN KETRGKIPKL FDEINPETKL ILVDYILFKG KWLTPFDPVF TEVDTFHLDK
YKTIKVPMMY GAGKFASTFD KNFRCHVLKL PYQGNATMLV VLMEKMGDHL ALEDYLTTDL
VETWLRNMKT RNMEVFFPKF KLDQKYEMHE LLRQMGIRRI FSPFADLSEL SATGRNLQVS
RVLQRTVIEV DERGTEAVAG ILSEITAYSM PPVIKVDRPF HFMIYEETSG MLLFLGRVVN
PTLL*
speed 0.74 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