Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000508053
Querying Taster for transcript #2: ENST00000507835
Querying Taster for transcript #3: ENST00000508989
Querying Taster for transcript #4: ENST00000262464
MT speed 0 s - this script 7.101924 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FBN2disease_causing_automatic0.999999999390739simple_aaeaffected0C103Ysingle base exchangers137852825show file
FBN2disease_causing_automatic0.999999999633107simple_aaeaffected0C1220Ysingle base exchangers137852825show file
FBN2disease_causing_automatic0.999999999977445simple_aaeaffected0C1253Ysingle base exchangers137852825show file
FBN2disease_causing_automatic0.999999999977445simple_aaeaffected0C1253Ysingle base exchangers137852825show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999390739 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950454)
  • known disease mutation: rs519 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:127671236C>TN/A show variant in all transcripts   IGV
HGNC symbol FBN2
Ensembl transcript ID ENST00000507835
Genbank transcript ID N/A
UniProt peptide P35556
alteration type single base exchange
alteration region CDS
DNA changes c.308G>A
cDNA.545G>A
g.323643G>A
AA changes C103Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS
103
frameshift no
known variant Reference ID: rs137852825
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs519 (pathogenic for Congenital contractural arachnodactyly) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950454)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950454)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950454)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0150.985
6.1081
(flanking)5.0461
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 increased323647wt: 0.2884 / mu: 0.3115 (marginal change - not scored)wt: TGTGACACCCAGTGC
mu: TATGACACCCAGTGC
 TGAC|accc
Donor gained3236390.65mu: ACGGAGGCTATGACA GGAG|gcta
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      103DIDECMIMNGGCDTQCTNSEGSYE
mutated  not conserved    103DIDECMIMNGGYDTQCTNSEGSY
Ptroglodytes  all identical  ENSPTRG00000017200  1207DIDECMIMNGGCDTQCTNSEGSY
Mmulatta  all identical  ENSMMUG00000010682  1253DIDECMIMNGGCDTQCTNSEGSY
Fcatus  all identical  ENSFCAG00000009685  1235DIDECMIMNGGCDTRCTNSEGSY
Mmusculus  all identical  ENSMUSG00000024598  1246DIDECMIMNGGCDTQCTNSEGSY
Ggallus  all identical  ENSGALG00000014686  1251DIDECMIMNGGCDTHCTNSEGSY
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0051999  427DDDECTLSTHNCPSNYDCHNTRGSF
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000032535  1150DIDECTIMNGGCDTHCTNSEGSY
protein features
start (aa)end (aa)featuredetails 
111142DOMAINEGF-like 1.might get lost (downstream of altered splice site)
115115DISULFIDBy similarity.might get lost (downstream of altered splice site)
119119DISULFIDBy similarity.might get lost (downstream of altered splice site)
124124DISULFIDBy similarity.might get lost (downstream of altered splice site)
130130DISULFIDBy similarity.might get lost (downstream of altered splice site)
132132DISULFIDBy similarity.might get lost (downstream of altered splice site)
141141DISULFIDBy similarity.might get lost (downstream of altered splice site)
145176DOMAINEGF-like 2.might get lost (downstream of altered splice site)
146146CONFLICTI -> L (in Ref. 2; BAG62163).might get lost (downstream of altered splice site)
149149DISULFIDBy similarity.might get lost (downstream of altered splice site)
153153DISULFIDBy similarity.might get lost (downstream of altered splice site)
159159DISULFIDBy similarity.might get lost (downstream of altered splice site)
164164DISULFIDBy similarity.might get lost (downstream of altered splice site)
166166DISULFIDBy similarity.might get lost (downstream of altered splice site)
175175DISULFIDBy similarity.might get lost (downstream of altered splice site)
176208DOMAINEGF-like 3.might get lost (downstream of altered splice site)
180180DISULFIDBy similarity.might get lost (downstream of altered splice site)
184184DISULFIDBy similarity.might get lost (downstream of altered splice site)
190190DISULFIDBy similarity.might get lost (downstream of altered splice site)
192195CONFLICTGPNR -> AQP (in Ref. 1; AAA18950).might get lost (downstream of altered splice site)
196196DISULFIDBy similarity.might get lost (downstream of altered splice site)
198198DISULFIDBy similarity.might get lost (downstream of altered splice site)
207207DISULFIDBy similarity.might get lost (downstream of altered splice site)
214266DOMAINTB 1.might get lost (downstream of altered splice site)
243243CONFLICTI -> T (in Ref. 1; AAA18950 and 2; BAG62163).might get lost (downstream of altered splice site)
276317DOMAINEGF-like 4; calcium-binding.might get lost (downstream of altered splice site)
280280DISULFIDBy similarity.might get lost (downstream of altered splice site)
287287DISULFIDBy similarity.might get lost (downstream of altered splice site)
292292DISULFIDBy similarity.might get lost (downstream of altered splice site)
301301DISULFIDBy similarity.might get lost (downstream of altered splice site)
303303DISULFIDBy similarity.might get lost (downstream of altered splice site)
316316DISULFIDBy similarity.might get lost (downstream of altered splice site)
318359DOMAINEGF-like 5; calcium-binding.might get lost (downstream of altered splice site)
322322DISULFIDBy similarity.might get lost (downstream of altered splice site)
329329DISULFIDBy similarity.might get lost (downstream of altered splice site)
334334DISULFIDBy similarity.might get lost (downstream of altered splice site)
343343DISULFIDBy similarity.might get lost (downstream of altered splice site)
345345DISULFIDBy similarity.might get lost (downstream of altered splice site)
358358DISULFIDBy similarity.might get lost (downstream of altered splice site)
364417DOMAINTB 2.might get lost (downstream of altered splice site)
492492CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
494534DOMAINEGF-like 6.might get lost (downstream of altered splice site)
498498DISULFIDBy similarity.might get lost (downstream of altered splice site)
505505DISULFIDBy similarity.might get lost (downstream of altered splice site)
510510DISULFIDBy similarity.might get lost (downstream of altered splice site)
519519DISULFIDBy similarity.might get lost (downstream of altered splice site)
521521DISULFIDBy similarity.might get lost (downstream of altered splice site)
533533DISULFIDBy similarity.might get lost (downstream of altered splice site)
535574DOMAINEGF-like 7; calcium-binding.might get lost (downstream of altered splice site)
539539DISULFIDBy similarity.might get lost (downstream of altered splice site)
544544DISULFIDBy similarity.might get lost (downstream of altered splice site)
549549DISULFIDBy similarity.might get lost (downstream of altered splice site)
558558DISULFIDBy similarity.might get lost (downstream of altered splice site)
560560DISULFIDBy similarity.might get lost (downstream of altered splice site)
573573DISULFIDBy similarity.might get lost (downstream of altered splice site)
575616DOMAINEGF-like 8; calcium-binding.might get lost (downstream of altered splice site)
579579DISULFIDBy similarity.might get lost (downstream of altered splice site)
586586DISULFIDBy similarity.might get lost (downstream of altered splice site)
591591DISULFIDBy similarity.might get lost (downstream of altered splice site)
600600DISULFIDBy similarity.might get lost (downstream of altered splice site)
602602DISULFIDBy similarity.might get lost (downstream of altered splice site)
615615DISULFIDBy similarity.might get lost (downstream of altered splice site)
617657DOMAINEGF-like 9; calcium-binding.might get lost (downstream of altered splice site)
621621DISULFIDBy similarity.might get lost (downstream of altered splice site)
627627DISULFIDBy similarity.might get lost (downstream of altered splice site)
632632DISULFIDBy similarity.might get lost (downstream of altered splice site)
641641DISULFIDBy similarity.might get lost (downstream of altered splice site)
643643DISULFIDBy similarity.might get lost (downstream of altered splice site)
656656DISULFIDBy similarity.might get lost (downstream of altered splice site)
658698DOMAINEGF-like 10; calcium-binding.might get lost (downstream of altered splice site)
662662DISULFIDBy similarity.might get lost (downstream of altered splice site)
668668DISULFIDBy similarity.might get lost (downstream of altered splice site)
673673DISULFIDBy similarity.might get lost (downstream of altered splice site)
682682DISULFIDBy similarity.might get lost (downstream of altered splice site)
684684DISULFIDBy similarity.might get lost (downstream of altered splice site)
697697DISULFIDBy similarity.might get lost (downstream of altered splice site)
704756DOMAINTB 3.might get lost (downstream of altered splice site)
768809DOMAINEGF-like 11; calcium-binding.might get lost (downstream of altered splice site)
772772DISULFIDBy similarity.might get lost (downstream of altered splice site)
779779DISULFIDBy similarity.might get lost (downstream of altered splice site)
784784DISULFIDBy similarity.might get lost (downstream of altered splice site)
793793DISULFIDBy similarity.might get lost (downstream of altered splice site)
795795DISULFIDBy similarity.might get lost (downstream of altered splice site)
808808DISULFIDBy similarity.might get lost (downstream of altered splice site)
810851DOMAINEGF-like 12; calcium-binding.might get lost (downstream of altered splice site)
814814DISULFIDBy similarity.might get lost (downstream of altered splice site)
821821DISULFIDBy similarity.might get lost (downstream of altered splice site)
826826DISULFIDBy similarity.might get lost (downstream of altered splice site)
835835DISULFIDBy similarity.might get lost (downstream of altered splice site)
837837DISULFIDBy similarity.might get lost (downstream of altered splice site)
850850DISULFIDBy similarity.might get lost (downstream of altered splice site)
852891DOMAINEGF-like 13; calcium-binding.might get lost (downstream of altered splice site)
856856DISULFIDBy similarity.might get lost (downstream of altered splice site)
861861DISULFIDBy similarity.might get lost (downstream of altered splice site)
866866DISULFIDBy similarity.might get lost (downstream of altered splice site)
875875DISULFIDBy similarity.might get lost (downstream of altered splice site)
877877DISULFIDBy similarity.might get lost (downstream of altered splice site)
890890DISULFIDBy similarity.might get lost (downstream of altered splice site)
896947DOMAINTB 4.might get lost (downstream of altered splice site)
955996DOMAINEGF-like 14; calcium-binding.might get lost (downstream of altered splice site)
959959DISULFIDBy similarity.might get lost (downstream of altered splice site)
966966DISULFIDBy similarity.might get lost (downstream of altered splice site)
971971DISULFIDBy similarity.might get lost (downstream of altered splice site)
980980DISULFIDBy similarity.might get lost (downstream of altered splice site)
982982DISULFIDBy similarity.might get lost (downstream of altered splice site)
995995DISULFIDBy similarity.might get lost (downstream of altered splice site)
10011052DOMAINTB 5.might get lost (downstream of altered splice site)
10731114DOMAINEGF-like 15; calcium-binding.might get lost (downstream of altered splice site)
10771077DISULFIDBy similarity.might get lost (downstream of altered splice site)
10841084DISULFIDBy similarity.might get lost (downstream of altered splice site)
10891089DISULFIDBy similarity.might get lost (downstream of altered splice site)
10981098DISULFIDBy similarity.might get lost (downstream of altered splice site)
11001100DISULFIDBy similarity.might get lost (downstream of altered splice site)
11121112CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
11131113DISULFIDBy similarity.might get lost (downstream of altered splice site)
11151157DOMAINEGF-like 16; calcium-binding.might get lost (downstream of altered splice site)
11191119DISULFIDBy similarity.might get lost (downstream of altered splice site)
11261126DISULFIDBy similarity.might get lost (downstream of altered splice site)
11311131DISULFIDBy similarity.might get lost (downstream of altered splice site)
11401140DISULFIDBy similarity.might get lost (downstream of altered splice site)
11421142DISULFIDBy similarity.might get lost (downstream of altered splice site)
11561156DISULFIDBy similarity.might get lost (downstream of altered splice site)
11581199DOMAINEGF-like 17; calcium-binding.might get lost (downstream of altered splice site)
11611161CONFLICTE -> G (in Ref. 1; AAA18950 and 4; CAB56757).might get lost (downstream of altered splice site)
11621162DISULFIDBy similarity.might get lost (downstream of altered splice site)
11691169DISULFIDBy similarity.might get lost (downstream of altered splice site)
11741174DISULFIDBy similarity.might get lost (downstream of altered splice site)
11831183DISULFIDBy similarity.might get lost (downstream of altered splice site)
11851185DISULFIDBy similarity.might get lost (downstream of altered splice site)
11981198DISULFIDBy similarity.might get lost (downstream of altered splice site)
12001241DOMAINEGF-like 18; calcium-binding.might get lost (downstream of altered splice site)
12041204DISULFIDBy similarity.might get lost (downstream of altered splice site)
12111211DISULFIDBy similarity.might get lost (downstream of altered splice site)
12161216DISULFIDBy similarity.might get lost (downstream of altered splice site)
12251225DISULFIDBy similarity.might get lost (downstream of altered splice site)
12271227DISULFIDBy similarity.might get lost (downstream of altered splice site)
12401240DISULFIDBy similarity.might get lost (downstream of altered splice site)
12421282DOMAINEGF-like 19; calcium-binding.might get lost (downstream of altered splice site)
12441244CONFLICTD -> G (in Ref. 2; BAG62163).might get lost (downstream of altered splice site)
12461246DISULFIDBy similarity.might get lost (downstream of altered splice site)
12531253DISULFIDBy similarity.might get lost (downstream of altered splice site)
12571257DISULFIDBy similarity.might get lost (downstream of altered splice site)
12661266DISULFIDBy similarity.might get lost (downstream of altered splice site)
12681268DISULFIDBy similarity.might get lost (downstream of altered splice site)
12811281DISULFIDBy similarity.might get lost (downstream of altered splice site)
12831324DOMAINEGF-like 20; calcium-binding.might get lost (downstream of altered splice site)
12871287DISULFIDBy similarity.might get lost (downstream of altered splice site)
12941294DISULFIDBy similarity.might get lost (downstream of altered splice site)
12991299DISULFIDBy similarity.might get lost (downstream of altered splice site)
13081308DISULFIDBy similarity.might get lost (downstream of altered splice site)
13101310DISULFIDBy similarity.might get lost (downstream of altered splice site)
13231323DISULFIDBy similarity.might get lost (downstream of altered splice site)
13251366DOMAINEGF-like 21; calcium-binding.might get lost (downstream of altered splice site)
13291329DISULFIDBy similarity.might get lost (downstream of altered splice site)
13361336DISULFIDBy similarity.might get lost (downstream of altered splice site)
13411341DISULFIDBy similarity.might get lost (downstream of altered splice site)
13501350DISULFIDBy similarity.might get lost (downstream of altered splice site)
13521352DISULFIDBy similarity.might get lost (downstream of altered splice site)
13651365DISULFIDBy similarity.might get lost (downstream of altered splice site)
13671407DOMAINEGF-like 22; calcium-binding.might get lost (downstream of altered splice site)
13711371DISULFIDBy similarity.might get lost (downstream of altered splice site)
13781378DISULFIDBy similarity.might get lost (downstream of altered splice site)
13841384DISULFIDBy similarity.might get lost (downstream of altered splice site)
13931393DISULFIDBy similarity.might get lost (downstream of altered splice site)
13951395DISULFIDBy similarity.might get lost (downstream of altered splice site)
14061406DISULFIDBy similarity.might get lost (downstream of altered splice site)
14081448DOMAINEGF-like 23; calcium-binding.might get lost (downstream of altered splice site)
14091409CONFLICTL -> R (in Ref. 4; CAB56757).might get lost (downstream of altered splice site)
14121412DISULFIDBy similarity.might get lost (downstream of altered splice site)
14141414CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
14191419DISULFIDBy similarity.might get lost (downstream of altered splice site)
14251425DISULFIDBy similarity.might get lost (downstream of altered splice site)
14341434DISULFIDBy similarity.might get lost (downstream of altered splice site)
14361436DISULFIDBy similarity.might get lost (downstream of altered splice site)
14471447DISULFIDBy similarity.might get lost (downstream of altered splice site)
14491490DOMAINEGF-like 24; calcium-binding.might get lost (downstream of altered splice site)
14531453DISULFIDBy similarity.might get lost (downstream of altered splice site)
14601460DISULFIDBy similarity.might get lost (downstream of altered splice site)
14651465DISULFIDBy similarity.might get lost (downstream of altered splice site)
14741474DISULFIDBy similarity.might get lost (downstream of altered splice site)
14761476DISULFIDBy similarity.might get lost (downstream of altered splice site)
14891489DISULFIDBy similarity.might get lost (downstream of altered splice site)
14911531DOMAINEGF-like 25; calcium-binding.might get lost (downstream of altered splice site)
14951495DISULFIDBy similarity.might get lost (downstream of altered splice site)
15011501DISULFIDBy similarity.might get lost (downstream of altered splice site)
15031503CONFLICTF -> S (in Ref. 1; AAA18950).might get lost (downstream of altered splice site)
15061506DISULFIDBy similarity.might get lost (downstream of altered splice site)
15151515DISULFIDBy similarity.might get lost (downstream of altered splice site)
15171517DISULFIDBy similarity.might get lost (downstream of altered splice site)
15291529CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15301530DISULFIDBy similarity.might get lost (downstream of altered splice site)
15321572DOMAINEGF-like 26; calcium-binding.might get lost (downstream of altered splice site)
15361536DISULFIDBy similarity.might get lost (downstream of altered splice site)
15421542DISULFIDBy similarity.might get lost (downstream of altered splice site)
15471547DISULFIDBy similarity.might get lost (downstream of altered splice site)
15561556DISULFIDBy similarity.might get lost (downstream of altered splice site)
15581558DISULFIDBy similarity.might get lost (downstream of altered splice site)
15711571DISULFIDBy similarity.might get lost (downstream of altered splice site)
15771633DOMAINTB 6.might get lost (downstream of altered splice site)
16251625CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16501691DOMAINEGF-like 27; calcium-binding.might get lost (downstream of altered splice site)
16541654DISULFIDBy similarity.might get lost (downstream of altered splice site)
16611661DISULFIDBy similarity.might get lost (downstream of altered splice site)
16661666DISULFIDBy similarity.might get lost (downstream of altered splice site)
16751675DISULFIDBy similarity.might get lost (downstream of altered splice site)
16771677DISULFIDBy similarity.might get lost (downstream of altered splice site)
16901690DISULFIDBy similarity.might get lost (downstream of altered splice site)
16921733DOMAINEGF-like 28; calcium-binding.might get lost (downstream of altered splice site)
16961696DISULFIDBy similarity.might get lost (downstream of altered splice site)
17031703DISULFIDBy similarity.might get lost (downstream of altered splice site)
17081708DISULFIDBy similarity.might get lost (downstream of altered splice site)
17141714CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17171717DISULFIDBy similarity.might get lost (downstream of altered splice site)
17191719DISULFIDBy similarity.might get lost (downstream of altered splice site)
17321732DISULFIDBy similarity.might get lost (downstream of altered splice site)
17381791DOMAINTB 7.might get lost (downstream of altered splice site)
17451745CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17561756CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18081849DOMAINEGF-like 29; calcium-binding.might get lost (downstream of altered splice site)
18121812DISULFIDBy similarity.might get lost (downstream of altered splice site)
18191819DISULFIDBy similarity.might get lost (downstream of altered splice site)
18241824DISULFIDBy similarity.might get lost (downstream of altered splice site)
18331833DISULFIDBy similarity.might get lost (downstream of altered splice site)
18351835DISULFIDBy similarity.might get lost (downstream of altered splice site)
18481848DISULFIDBy similarity.might get lost (downstream of altered splice site)
18501891DOMAINEGF-like 30; calcium-binding.might get lost (downstream of altered splice site)
18541854DISULFIDBy similarity.might get lost (downstream of altered splice site)
18611861DISULFIDBy similarity.might get lost (downstream of altered splice site)
18671867DISULFIDBy similarity.might get lost (downstream of altered splice site)
18761876DISULFIDBy similarity.might get lost (downstream of altered splice site)
18781878DISULFIDBy similarity.might get lost (downstream of altered splice site)
18901890DISULFIDBy similarity.might get lost (downstream of altered splice site)
18921933DOMAINEGF-like 31; calcium-binding.might get lost (downstream of altered splice site)
18961896DISULFIDBy similarity.might get lost (downstream of altered splice site)
19031903DISULFIDBy similarity.might get lost (downstream of altered splice site)
19081908DISULFIDBy similarity.might get lost (downstream of altered splice site)
19171917DISULFIDBy similarity.might get lost (downstream of altered splice site)
19191919DISULFIDBy similarity.might get lost (downstream of altered splice site)
19321932DISULFIDBy similarity.might get lost (downstream of altered splice site)
19341972DOMAINEGF-like 32; calcium-binding.might get lost (downstream of altered splice site)
19381938DISULFIDBy similarity.might get lost (downstream of altered splice site)
19431943DISULFIDBy similarity.might get lost (downstream of altered splice site)
19451945CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19481948DISULFIDBy similarity.might get lost (downstream of altered splice site)
19571957DISULFIDBy similarity.might get lost (downstream of altered splice site)
19591959DISULFIDBy similarity.might get lost (downstream of altered splice site)
19711971DISULFIDBy similarity.might get lost (downstream of altered splice site)
19732015DOMAINEGF-like 33; calcium-binding.might get lost (downstream of altered splice site)
19771977DISULFIDBy similarity.might get lost (downstream of altered splice site)
19851985DISULFIDBy similarity.might get lost (downstream of altered splice site)
19901990DISULFIDBy similarity.might get lost (downstream of altered splice site)
19991999DISULFIDBy similarity.might get lost (downstream of altered splice site)
20012001DISULFIDBy similarity.might get lost (downstream of altered splice site)
20142014DISULFIDBy similarity.might get lost (downstream of altered splice site)
20162055DOMAINEGF-like 34; calcium-binding.might get lost (downstream of altered splice site)
20202020DISULFIDBy similarity.might get lost (downstream of altered splice site)
20272027DISULFIDBy similarity.might get lost (downstream of altered splice site)
20322032DISULFIDBy similarity.might get lost (downstream of altered splice site)
20412041DISULFIDBy similarity.might get lost (downstream of altered splice site)
20432043DISULFIDBy similarity.might get lost (downstream of altered splice site)
20542054DISULFIDBy similarity.might get lost (downstream of altered splice site)
20562097DOMAINEGF-like 35; calcium-binding.might get lost (downstream of altered splice site)
20602060DISULFIDBy similarity.might get lost (downstream of altered splice site)
20672067DISULFIDBy similarity.might get lost (downstream of altered splice site)
20722072DISULFIDBy similarity.might get lost (downstream of altered splice site)
20812081DISULFIDBy similarity.might get lost (downstream of altered splice site)
20832083DISULFIDBy similarity.might get lost (downstream of altered splice site)
20962096DISULFIDBy similarity.might get lost (downstream of altered splice site)
21022155DOMAINTB 8.might get lost (downstream of altered splice site)
21202120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
21712212DOMAINEGF-like 36; calcium-binding.might get lost (downstream of altered splice site)
21752175DISULFIDBy similarity.might get lost (downstream of altered splice site)
21822182DISULFIDBy similarity.might get lost (downstream of altered splice site)
21872187DISULFIDBy similarity.might get lost (downstream of altered splice site)
21962196DISULFIDBy similarity.might get lost (downstream of altered splice site)
21982198DISULFIDBy similarity.might get lost (downstream of altered splice site)
22112211DISULFIDBy similarity.might get lost (downstream of altered splice site)
22132252DOMAINEGF-like 37; calcium-binding.might get lost (downstream of altered splice site)
22172217DISULFIDBy similarity.might get lost (downstream of altered splice site)
22232223DISULFIDBy similarity.might get lost (downstream of altered splice site)
22252225CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22282228DISULFIDBy similarity.might get lost (downstream of altered splice site)
22372237DISULFIDBy similarity.might get lost (downstream of altered splice site)
22392239DISULFIDBy similarity.might get lost (downstream of altered splice site)
22512251DISULFIDBy similarity.might get lost (downstream of altered splice site)
22532293DOMAINEGF-like 38; calcium-binding.might get lost (downstream of altered splice site)
22572257DISULFIDBy similarity.might get lost (downstream of altered splice site)
22642264DISULFIDBy similarity.might get lost (downstream of altered splice site)
22682268DISULFIDBy similarity.might get lost (downstream of altered splice site)
22772277DISULFIDBy similarity.might get lost (downstream of altered splice site)
22792279DISULFIDBy similarity.might get lost (downstream of altered splice site)
22922292DISULFIDBy similarity.might get lost (downstream of altered splice site)
22942337DOMAINEGF-like 39; calcium-binding.might get lost (downstream of altered splice site)
22982298DISULFIDBy similarity.might get lost (downstream of altered splice site)
23052305DISULFIDBy similarity.might get lost (downstream of altered splice site)
23122312DISULFIDBy similarity.might get lost (downstream of altered splice site)
23212321DISULFIDBy similarity.might get lost (downstream of altered splice site)
23232323DISULFIDBy similarity.might get lost (downstream of altered splice site)
23362336DISULFIDBy similarity.might get lost (downstream of altered splice site)
23382379DOMAINEGF-like 40; calcium-binding.might get lost (downstream of altered splice site)
23422342DISULFIDBy similarity.might get lost (downstream of altered splice site)
23492349DISULFIDBy similarity.might get lost (downstream of altered splice site)
23542354DISULFIDBy similarity.might get lost (downstream of altered splice site)
23632363DISULFIDBy similarity.might get lost (downstream of altered splice site)
23652365DISULFIDBy similarity.might get lost (downstream of altered splice site)
23782378DISULFIDBy similarity.might get lost (downstream of altered splice site)
23842437DOMAINTB 9.might get lost (downstream of altered splice site)
24492490DOMAINEGF-like 41; calcium-binding.might get lost (downstream of altered splice site)
24532453DISULFIDBy similarity.might get lost (downstream of altered splice site)
24602460DISULFIDBy similarity.might get lost (downstream of altered splice site)
24652465DISULFIDBy similarity.might get lost (downstream of altered splice site)
24742474DISULFIDBy similarity.might get lost (downstream of altered splice site)
24762476DISULFIDBy similarity.might get lost (downstream of altered splice site)
24892489DISULFIDBy similarity.might get lost (downstream of altered splice site)
24912531DOMAINEGF-like 42; calcium-binding.might get lost (downstream of altered splice site)
24952495DISULFIDBy similarity.might get lost (downstream of altered splice site)
25022502DISULFIDBy similarity.might get lost (downstream of altered splice site)
25062506DISULFIDBy similarity.might get lost (downstream of altered splice site)
25152515DISULFIDBy similarity.might get lost (downstream of altered splice site)
25172517DISULFIDBy similarity.might get lost (downstream of altered splice site)
25302530DISULFIDBy similarity.might get lost (downstream of altered splice site)
25322570DOMAINEGF-like 43; calcium-binding.might get lost (downstream of altered splice site)
25362536DISULFIDBy similarity.might get lost (downstream of altered splice site)
25432543DISULFIDBy similarity.might get lost (downstream of altered splice site)
25472547DISULFIDBy similarity.might get lost (downstream of altered splice site)
25562556DISULFIDBy similarity.might get lost (downstream of altered splice site)
25582558DISULFIDBy similarity.might get lost (downstream of altered splice site)
25692569DISULFIDBy similarity.might get lost (downstream of altered splice site)
25712613DOMAINEGF-like 44; calcium-binding.might get lost (downstream of altered splice site)
25752575DISULFIDBy similarity.might get lost (downstream of altered splice site)
25822582DISULFIDBy similarity.might get lost (downstream of altered splice site)
25842584CONFLICTA -> G (in Ref. 1; AAA18950).might get lost (downstream of altered splice site)
25882588DISULFIDBy similarity.might get lost (downstream of altered splice site)
25972597DISULFIDBy similarity.might get lost (downstream of altered splice site)
25992599DISULFIDBy similarity.might get lost (downstream of altered splice site)
26122612DISULFIDBy similarity.might get lost (downstream of altered splice site)
26142653DOMAINEGF-like 45; calcium-binding.might get lost (downstream of altered splice site)
26182618DISULFIDBy similarity.might get lost (downstream of altered splice site)
26242624DISULFIDBy similarity.might get lost (downstream of altered splice site)
26282628DISULFIDBy similarity.might get lost (downstream of altered splice site)
26372637DISULFIDBy similarity.might get lost (downstream of altered splice site)
26392639DISULFIDBy similarity.might get lost (downstream of altered splice site)
26522652DISULFIDBy similarity.might get lost (downstream of altered splice site)
26542694DOMAINEGF-like 46; calcium-binding.might get lost (downstream of altered splice site)
26582658DISULFIDBy similarity.might get lost (downstream of altered splice site)
26642664DISULFIDBy similarity.might get lost (downstream of altered splice site)
26692669DISULFIDBy similarity.might get lost (downstream of altered splice site)
26782678DISULFIDBy similarity.might get lost (downstream of altered splice site)
26802680DISULFIDBy similarity.might get lost (downstream of altered splice site)
26932693DISULFIDBy similarity.might get lost (downstream of altered splice site)
26952734DOMAINEGF-like 47; calcium-binding.might get lost (downstream of altered splice site)
26992699DISULFIDBy similarity.might get lost (downstream of altered splice site)
27062706DISULFIDBy similarity.might get lost (downstream of altered splice site)
27102710DISULFIDBy similarity.might get lost (downstream of altered splice site)
27192719DISULFIDBy similarity.might get lost (downstream of altered splice site)
27212721DISULFIDBy similarity.might get lost (downstream of altered splice site)
27332733DISULFIDBy similarity.might get lost (downstream of altered splice site)
28082808CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1071 / 1071
position (AA) of stopcodon in wt / mu AA sequence 357 / 357
position of stopcodon in wt / mu cDNA 1308 / 1308
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 238 / 238
chromosome 5
strand -1
last intron/exon boundary 1133
theoretical NMD boundary in CDS 845
length of CDS 1071
coding sequence (CDS) position 308
cDNA position
(for ins/del: last normal base / first normal base)
545
gDNA position
(for ins/del: last normal base / first normal base)
323643
chromosomal position
(for ins/del: last normal base / first normal base)
127671236
original gDNA sequence snippet TATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATT
altered gDNA sequence snippet TATGATAATGAACGGAGGCTATGACACCCAGTGCACAAATT
original cDNA sequence snippet TATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATT
altered cDNA sequence snippet TATGATAATGAACGGAGGCTATGACACCCAGTGCACAAATT
wildtype AA sequence MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD INECSLSDNL
CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGCDTQCTNS EGSYECSCSE
GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM KTCIDVNECD
LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM HASCLNIPGS
FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF TGDGFTCSDV
DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ GGSPGFQLIF KLDQPQ*
mutated AA sequence MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD INECSLSDNL
CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGYDTQCTNS EGSYECSCSE
GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM KTCIDVNECD
LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM HASCLNIPGS
FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF TGDGFTCSDV
DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ GGSPGFQLIF KLDQPQ*
speed 1.74 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
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999633107 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950454)
  • known disease mutation: rs519 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:127671236C>TN/A show variant in all transcripts   IGV
HGNC symbol FBN2
Ensembl transcript ID ENST00000508989
Genbank transcript ID N/A
UniProt peptide P35556
alteration type single base exchange
alteration region CDS
DNA changes c.3659G>A
cDNA.3877G>A
g.323643G>A
AA changes C1220Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1220
frameshift no
known variant Reference ID: rs137852825
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs519 (pathogenic for Congenital contractural arachnodactyly) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950454)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950454)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950454)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0150.985
6.1081
(flanking)5.0461
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 increased323647wt: 0.2884 / mu: 0.3115 (marginal change - not scored)wt: TGTGACACCCAGTGC
mu: TATGACACCCAGTGC
 TGAC|accc
Donor gained3236390.65mu: ACGGAGGCTATGACA GGAG|gcta
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1220DIDECMIMNGGCDTQCTNSEGSYE
mutated  not conserved    1220DIDECMIMNGGYDTQCTNSEGSY
Ptroglodytes  all identical  ENSPTRG00000017200  1332DVDECEIGAHNCDMHASCLNIPGSF
Mmulatta  all identical  ENSMMUG00000010682  1253DIDECMIMNGGCDTQCTNS
Fcatus  all identical  ENSFCAG00000009685  1235DIDECMIMNGGCDTRCTNSEGSY
Mmusculus  all identical  ENSMUSG00000024598  1246DIDECMIMNGGCDTQCTNS
Ggallus  all identical  ENSGALG00000014686  1251ECMIMNGGCDTHCTNSEGSY
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0051999  664DIDECQVIPGLCQQKCLNFWGGY
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000032535  1150DIDECTIMNGGCDTHCTNSEGSY
protein features
start (aa)end (aa)featuredetails 
12001241DOMAINEGF-like 18; calcium-binding.lost
12251225DISULFIDBy similarity.might get lost (downstream of altered splice site)
12271227DISULFIDBy similarity.might get lost (downstream of altered splice site)
12401240DISULFIDBy similarity.might get lost (downstream of altered splice site)
12421282DOMAINEGF-like 19; calcium-binding.might get lost (downstream of altered splice site)
12441244CONFLICTD -> G (in Ref. 2; BAG62163).might get lost (downstream of altered splice site)
12461246DISULFIDBy similarity.might get lost (downstream of altered splice site)
12531253DISULFIDBy similarity.might get lost (downstream of altered splice site)
12571257DISULFIDBy similarity.might get lost (downstream of altered splice site)
12661266DISULFIDBy similarity.might get lost (downstream of altered splice site)
12681268DISULFIDBy similarity.might get lost (downstream of altered splice site)
12811281DISULFIDBy similarity.might get lost (downstream of altered splice site)
12831324DOMAINEGF-like 20; calcium-binding.might get lost (downstream of altered splice site)
12871287DISULFIDBy similarity.might get lost (downstream of altered splice site)
12941294DISULFIDBy similarity.might get lost (downstream of altered splice site)
12991299DISULFIDBy similarity.might get lost (downstream of altered splice site)
13081308DISULFIDBy similarity.might get lost (downstream of altered splice site)
13101310DISULFIDBy similarity.might get lost (downstream of altered splice site)
13231323DISULFIDBy similarity.might get lost (downstream of altered splice site)
13251366DOMAINEGF-like 21; calcium-binding.might get lost (downstream of altered splice site)
13291329DISULFIDBy similarity.might get lost (downstream of altered splice site)
13361336DISULFIDBy similarity.might get lost (downstream of altered splice site)
13411341DISULFIDBy similarity.might get lost (downstream of altered splice site)
13501350DISULFIDBy similarity.might get lost (downstream of altered splice site)
13521352DISULFIDBy similarity.might get lost (downstream of altered splice site)
13651365DISULFIDBy similarity.might get lost (downstream of altered splice site)
13671407DOMAINEGF-like 22; calcium-binding.might get lost (downstream of altered splice site)
13711371DISULFIDBy similarity.might get lost (downstream of altered splice site)
13781378DISULFIDBy similarity.might get lost (downstream of altered splice site)
13841384DISULFIDBy similarity.might get lost (downstream of altered splice site)
13931393DISULFIDBy similarity.might get lost (downstream of altered splice site)
13951395DISULFIDBy similarity.might get lost (downstream of altered splice site)
14061406DISULFIDBy similarity.might get lost (downstream of altered splice site)
14081448DOMAINEGF-like 23; calcium-binding.might get lost (downstream of altered splice site)
14091409CONFLICTL -> R (in Ref. 4; CAB56757).might get lost (downstream of altered splice site)
14121412DISULFIDBy similarity.might get lost (downstream of altered splice site)
14141414CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
14191419DISULFIDBy similarity.might get lost (downstream of altered splice site)
14251425DISULFIDBy similarity.might get lost (downstream of altered splice site)
14341434DISULFIDBy similarity.might get lost (downstream of altered splice site)
14361436DISULFIDBy similarity.might get lost (downstream of altered splice site)
14471447DISULFIDBy similarity.might get lost (downstream of altered splice site)
14491490DOMAINEGF-like 24; calcium-binding.might get lost (downstream of altered splice site)
14531453DISULFIDBy similarity.might get lost (downstream of altered splice site)
14601460DISULFIDBy similarity.might get lost (downstream of altered splice site)
14651465DISULFIDBy similarity.might get lost (downstream of altered splice site)
14741474DISULFIDBy similarity.might get lost (downstream of altered splice site)
14761476DISULFIDBy similarity.might get lost (downstream of altered splice site)
14891489DISULFIDBy similarity.might get lost (downstream of altered splice site)
14911531DOMAINEGF-like 25; calcium-binding.might get lost (downstream of altered splice site)
14951495DISULFIDBy similarity.might get lost (downstream of altered splice site)
15011501DISULFIDBy similarity.might get lost (downstream of altered splice site)
15031503CONFLICTF -> S (in Ref. 1; AAA18950).might get lost (downstream of altered splice site)
15061506DISULFIDBy similarity.might get lost (downstream of altered splice site)
15151515DISULFIDBy similarity.might get lost (downstream of altered splice site)
15171517DISULFIDBy similarity.might get lost (downstream of altered splice site)
15291529CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15301530DISULFIDBy similarity.might get lost (downstream of altered splice site)
15321572DOMAINEGF-like 26; calcium-binding.might get lost (downstream of altered splice site)
15361536DISULFIDBy similarity.might get lost (downstream of altered splice site)
15421542DISULFIDBy similarity.might get lost (downstream of altered splice site)
15471547DISULFIDBy similarity.might get lost (downstream of altered splice site)
15561556DISULFIDBy similarity.might get lost (downstream of altered splice site)
15581558DISULFIDBy similarity.might get lost (downstream of altered splice site)
15711571DISULFIDBy similarity.might get lost (downstream of altered splice site)
15771633DOMAINTB 6.might get lost (downstream of altered splice site)
16251625CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16501691DOMAINEGF-like 27; calcium-binding.might get lost (downstream of altered splice site)
16541654DISULFIDBy similarity.might get lost (downstream of altered splice site)
16611661DISULFIDBy similarity.might get lost (downstream of altered splice site)
16661666DISULFIDBy similarity.might get lost (downstream of altered splice site)
16751675DISULFIDBy similarity.might get lost (downstream of altered splice site)
16771677DISULFIDBy similarity.might get lost (downstream of altered splice site)
16901690DISULFIDBy similarity.might get lost (downstream of altered splice site)
16921733DOMAINEGF-like 28; calcium-binding.might get lost (downstream of altered splice site)
16961696DISULFIDBy similarity.might get lost (downstream of altered splice site)
17031703DISULFIDBy similarity.might get lost (downstream of altered splice site)
17081708DISULFIDBy similarity.might get lost (downstream of altered splice site)
17141714CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17171717DISULFIDBy similarity.might get lost (downstream of altered splice site)
17191719DISULFIDBy similarity.might get lost (downstream of altered splice site)
17321732DISULFIDBy similarity.might get lost (downstream of altered splice site)
17381791DOMAINTB 7.might get lost (downstream of altered splice site)
17451745CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17561756CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18081849DOMAINEGF-like 29; calcium-binding.might get lost (downstream of altered splice site)
18121812DISULFIDBy similarity.might get lost (downstream of altered splice site)
18191819DISULFIDBy similarity.might get lost (downstream of altered splice site)
18241824DISULFIDBy similarity.might get lost (downstream of altered splice site)
18331833DISULFIDBy similarity.might get lost (downstream of altered splice site)
18351835DISULFIDBy similarity.might get lost (downstream of altered splice site)
18481848DISULFIDBy similarity.might get lost (downstream of altered splice site)
18501891DOMAINEGF-like 30; calcium-binding.might get lost (downstream of altered splice site)
18541854DISULFIDBy similarity.might get lost (downstream of altered splice site)
18611861DISULFIDBy similarity.might get lost (downstream of altered splice site)
18671867DISULFIDBy similarity.might get lost (downstream of altered splice site)
18761876DISULFIDBy similarity.might get lost (downstream of altered splice site)
18781878DISULFIDBy similarity.might get lost (downstream of altered splice site)
18901890DISULFIDBy similarity.might get lost (downstream of altered splice site)
18921933DOMAINEGF-like 31; calcium-binding.might get lost (downstream of altered splice site)
18961896DISULFIDBy similarity.might get lost (downstream of altered splice site)
19031903DISULFIDBy similarity.might get lost (downstream of altered splice site)
19081908DISULFIDBy similarity.might get lost (downstream of altered splice site)
19171917DISULFIDBy similarity.might get lost (downstream of altered splice site)
19191919DISULFIDBy similarity.might get lost (downstream of altered splice site)
19321932DISULFIDBy similarity.might get lost (downstream of altered splice site)
19341972DOMAINEGF-like 32; calcium-binding.might get lost (downstream of altered splice site)
19381938DISULFIDBy similarity.might get lost (downstream of altered splice site)
19431943DISULFIDBy similarity.might get lost (downstream of altered splice site)
19451945CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19481948DISULFIDBy similarity.might get lost (downstream of altered splice site)
19571957DISULFIDBy similarity.might get lost (downstream of altered splice site)
19591959DISULFIDBy similarity.might get lost (downstream of altered splice site)
19711971DISULFIDBy similarity.might get lost (downstream of altered splice site)
19732015DOMAINEGF-like 33; calcium-binding.might get lost (downstream of altered splice site)
19771977DISULFIDBy similarity.might get lost (downstream of altered splice site)
19851985DISULFIDBy similarity.might get lost (downstream of altered splice site)
19901990DISULFIDBy similarity.might get lost (downstream of altered splice site)
19991999DISULFIDBy similarity.might get lost (downstream of altered splice site)
20012001DISULFIDBy similarity.might get lost (downstream of altered splice site)
20142014DISULFIDBy similarity.might get lost (downstream of altered splice site)
20162055DOMAINEGF-like 34; calcium-binding.might get lost (downstream of altered splice site)
20202020DISULFIDBy similarity.might get lost (downstream of altered splice site)
20272027DISULFIDBy similarity.might get lost (downstream of altered splice site)
20322032DISULFIDBy similarity.might get lost (downstream of altered splice site)
20412041DISULFIDBy similarity.might get lost (downstream of altered splice site)
20432043DISULFIDBy similarity.might get lost (downstream of altered splice site)
20542054DISULFIDBy similarity.might get lost (downstream of altered splice site)
20562097DOMAINEGF-like 35; calcium-binding.might get lost (downstream of altered splice site)
20602060DISULFIDBy similarity.might get lost (downstream of altered splice site)
20672067DISULFIDBy similarity.might get lost (downstream of altered splice site)
20722072DISULFIDBy similarity.might get lost (downstream of altered splice site)
20812081DISULFIDBy similarity.might get lost (downstream of altered splice site)
20832083DISULFIDBy similarity.might get lost (downstream of altered splice site)
20962096DISULFIDBy similarity.might get lost (downstream of altered splice site)
21022155DOMAINTB 8.might get lost (downstream of altered splice site)
21202120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
21712212DOMAINEGF-like 36; calcium-binding.might get lost (downstream of altered splice site)
21752175DISULFIDBy similarity.might get lost (downstream of altered splice site)
21822182DISULFIDBy similarity.might get lost (downstream of altered splice site)
21872187DISULFIDBy similarity.might get lost (downstream of altered splice site)
21962196DISULFIDBy similarity.might get lost (downstream of altered splice site)
21982198DISULFIDBy similarity.might get lost (downstream of altered splice site)
22112211DISULFIDBy similarity.might get lost (downstream of altered splice site)
22132252DOMAINEGF-like 37; calcium-binding.might get lost (downstream of altered splice site)
22172217DISULFIDBy similarity.might get lost (downstream of altered splice site)
22232223DISULFIDBy similarity.might get lost (downstream of altered splice site)
22252225CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22282228DISULFIDBy similarity.might get lost (downstream of altered splice site)
22372237DISULFIDBy similarity.might get lost (downstream of altered splice site)
22392239DISULFIDBy similarity.might get lost (downstream of altered splice site)
22512251DISULFIDBy similarity.might get lost (downstream of altered splice site)
22532293DOMAINEGF-like 38; calcium-binding.might get lost (downstream of altered splice site)
22572257DISULFIDBy similarity.might get lost (downstream of altered splice site)
22642264DISULFIDBy similarity.might get lost (downstream of altered splice site)
22682268DISULFIDBy similarity.might get lost (downstream of altered splice site)
22772277DISULFIDBy similarity.might get lost (downstream of altered splice site)
22792279DISULFIDBy similarity.might get lost (downstream of altered splice site)
22922292DISULFIDBy similarity.might get lost (downstream of altered splice site)
22942337DOMAINEGF-like 39; calcium-binding.might get lost (downstream of altered splice site)
22982298DISULFIDBy similarity.might get lost (downstream of altered splice site)
23052305DISULFIDBy similarity.might get lost (downstream of altered splice site)
23122312DISULFIDBy similarity.might get lost (downstream of altered splice site)
23212321DISULFIDBy similarity.might get lost (downstream of altered splice site)
23232323DISULFIDBy similarity.might get lost (downstream of altered splice site)
23362336DISULFIDBy similarity.might get lost (downstream of altered splice site)
23382379DOMAINEGF-like 40; calcium-binding.might get lost (downstream of altered splice site)
23422342DISULFIDBy similarity.might get lost (downstream of altered splice site)
23492349DISULFIDBy similarity.might get lost (downstream of altered splice site)
23542354DISULFIDBy similarity.might get lost (downstream of altered splice site)
23632363DISULFIDBy similarity.might get lost (downstream of altered splice site)
23652365DISULFIDBy similarity.might get lost (downstream of altered splice site)
23782378DISULFIDBy similarity.might get lost (downstream of altered splice site)
23842437DOMAINTB 9.might get lost (downstream of altered splice site)
24492490DOMAINEGF-like 41; calcium-binding.might get lost (downstream of altered splice site)
24532453DISULFIDBy similarity.might get lost (downstream of altered splice site)
24602460DISULFIDBy similarity.might get lost (downstream of altered splice site)
24652465DISULFIDBy similarity.might get lost (downstream of altered splice site)
24742474DISULFIDBy similarity.might get lost (downstream of altered splice site)
24762476DISULFIDBy similarity.might get lost (downstream of altered splice site)
24892489DISULFIDBy similarity.might get lost (downstream of altered splice site)
24912531DOMAINEGF-like 42; calcium-binding.might get lost (downstream of altered splice site)
24952495DISULFIDBy similarity.might get lost (downstream of altered splice site)
25022502DISULFIDBy similarity.might get lost (downstream of altered splice site)
25062506DISULFIDBy similarity.might get lost (downstream of altered splice site)
25152515DISULFIDBy similarity.might get lost (downstream of altered splice site)
25172517DISULFIDBy similarity.might get lost (downstream of altered splice site)
25302530DISULFIDBy similarity.might get lost (downstream of altered splice site)
25322570DOMAINEGF-like 43; calcium-binding.might get lost (downstream of altered splice site)
25362536DISULFIDBy similarity.might get lost (downstream of altered splice site)
25432543DISULFIDBy similarity.might get lost (downstream of altered splice site)
25472547DISULFIDBy similarity.might get lost (downstream of altered splice site)
25562556DISULFIDBy similarity.might get lost (downstream of altered splice site)
25582558DISULFIDBy similarity.might get lost (downstream of altered splice site)
25692569DISULFIDBy similarity.might get lost (downstream of altered splice site)
25712613DOMAINEGF-like 44; calcium-binding.might get lost (downstream of altered splice site)
25752575DISULFIDBy similarity.might get lost (downstream of altered splice site)
25822582DISULFIDBy similarity.might get lost (downstream of altered splice site)
25842584CONFLICTA -> G (in Ref. 1; AAA18950).might get lost (downstream of altered splice site)
25882588DISULFIDBy similarity.might get lost (downstream of altered splice site)
25972597DISULFIDBy similarity.might get lost (downstream of altered splice site)
25992599DISULFIDBy similarity.might get lost (downstream of altered splice site)
26122612DISULFIDBy similarity.might get lost (downstream of altered splice site)
26142653DOMAINEGF-like 45; calcium-binding.might get lost (downstream of altered splice site)
26182618DISULFIDBy similarity.might get lost (downstream of altered splice site)
26242624DISULFIDBy similarity.might get lost (downstream of altered splice site)
26282628DISULFIDBy similarity.might get lost (downstream of altered splice site)
26372637DISULFIDBy similarity.might get lost (downstream of altered splice site)
26392639DISULFIDBy similarity.might get lost (downstream of altered splice site)
26522652DISULFIDBy similarity.might get lost (downstream of altered splice site)
26542694DOMAINEGF-like 46; calcium-binding.might get lost (downstream of altered splice site)
26582658DISULFIDBy similarity.might get lost (downstream of altered splice site)
26642664DISULFIDBy similarity.might get lost (downstream of altered splice site)
26692669DISULFIDBy similarity.might get lost (downstream of altered splice site)
26782678DISULFIDBy similarity.might get lost (downstream of altered splice site)
26802680DISULFIDBy similarity.might get lost (downstream of altered splice site)
26932693DISULFIDBy similarity.might get lost (downstream of altered splice site)
26952734DOMAINEGF-like 47; calcium-binding.might get lost (downstream of altered splice site)
26992699DISULFIDBy similarity.might get lost (downstream of altered splice site)
27062706DISULFIDBy similarity.might get lost (downstream of altered splice site)
27102710DISULFIDBy similarity.might get lost (downstream of altered splice site)
27192719DISULFIDBy similarity.might get lost (downstream of altered splice site)
27212721DISULFIDBy similarity.might get lost (downstream of altered splice site)
27332733DISULFIDBy similarity.might get lost (downstream of altered splice site)
28082808CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4422 / 4422
position (AA) of stopcodon in wt / mu AA sequence 1474 / 1474
position of stopcodon in wt / mu cDNA 4640 / 4640
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 219 / 219
chromosome 5
strand -1
last intron/exon boundary 4465
theoretical NMD boundary in CDS 4196
length of CDS 4422
coding sequence (CDS) position 3659
cDNA position
(for ins/del: last normal base / first normal base)
3877
gDNA position
(for ins/del: last normal base / first normal base)
323643
chromosomal position
(for ins/del: last normal base / first normal base)
127671236
original gDNA sequence snippet TATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATT
altered gDNA sequence snippet TATGATAATGAACGGAGGCTATGACACCCAGTGCACAAATT
original cDNA sequence snippet TATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATT
altered cDNA sequence snippet TATGATAATGAACGGAGGCTATGACACCCAGTGCACAAATT
wildtype AA sequence MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA TAGSEGGFLA
PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG WKTLPGGNQC IVLQQCSVRC
MNGGTCADDH CQCQKGYIGT YCGQPVCENG CQNGGRCIGP NRCACVYGFT GPQCERDYRT
GPCFTQVNNQ MCQGQLTGIV CTKTLCCATI GRAWGHPCEM CPAQPQPCRR GFIPNIRTGA
CQDVDECQAI PGICQGGNCI NTVGSFECRC PAGHKQSETT QKCEDIDECS IIPGICETGE
CSNTVGSYFC VCPRGYVTST DGSRCIDQRT GMCFSGLVNG RCAQELPGRM TKMQCCCEPG
RCWGIGTIPE ACPVRGSEEY RRLCMDGLPM GGIPGSAGSR PGGTGGNGFA PSGNGNGYGP
GGTGFIPIPG GNGFSPGVGG AGVGAGGQGP IITGLTILNQ TIDICKHHAN LCLNGRCIPT
VSSYRCECNM GYKQDANGDC IDVDECTSNP CTNGDCVNTP GSYYCKCHAG FQRTPTKQAC
IDIDECIQNG VLCKNGRCVN TDGSFQCICN AGFELTTDGK NCVDHDECTT TNMCLNGMCI
NEDGSFKCIC KPGFVLAPNG RYCTDVDECQ TPGICMNGHC INSEGSFRCD CPPGLAVGMD
GRVCVDTHMR STCYGGIKKG VCVRPFPGAV TKSECCCANP DYGFGEPCQP CPAKNSAEFH
GLCSSGVGIT VDGRDINECA LDPDICANGI CENLRGSYRC NCNSGYEPDA SGRNCIDIDE
CLVNRLLCDN GLCRNTPGSY SCTCPPGYVF RTETETCEDI NECESNPCVN GACRNNLGSF
NCECSPGSKL SSTGLICIDS LKGTCWLNIQ DSRCEVNING ATLKSECCAT LGAAWGSPCE
RCELDTACPR GLARIKGVTC EDVNECEVFP GVCPNGRCVN SKGSFHCECP EGLTLDGTGR
VCLDIRMEQC YLKWDEDECI HPVPGKFRMD ACCCAVGAAW GTECEECPKP GTKEYETLCP
RGAGFANRGD VLTGRPFYKD INECKAFPGM CTYGKCRNTI GSFKCRCNSG FALDMEERNC
TDIDECRISP DLCGSGICVN TPGSFECECF EGYESGFMMM KNCMDIDECE RNPLLCRGGT
CVNTEGSFQC DCPLGHELSP SREDCVDINE CSLSDNLCRN GKCVNMIGTY QCSCNPGYQA
TPDRQGCTDI DECMIMNGGC DTQCTNSEGS YECSCSEGYA LMPDGRSCAD IDECENNPDI
CDGGQCTNIP GEYRCLCYDG FMASMDMKTC IDVNECDLNS NICMFGECEN TKGSFICHCQ
LGYSVKKGTT GCTDVDECEI GAHNCDMHAS CLNIPGSFKC SCREGWIGNG IKCIDLDECS
NGTHQCSINA QCVNTPGSYR CACSEGFTGD GFTCSDVDEC AENINLCENG QCLNVPGAYR
CECEMGFTPA SDSRSCQGGS PGFQLIFKLD QPQ*
mutated AA sequence MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA TAGSEGGFLA
PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG WKTLPGGNQC IVLQQCSVRC
MNGGTCADDH CQCQKGYIGT YCGQPVCENG CQNGGRCIGP NRCACVYGFT GPQCERDYRT
GPCFTQVNNQ MCQGQLTGIV CTKTLCCATI GRAWGHPCEM CPAQPQPCRR GFIPNIRTGA
CQDVDECQAI PGICQGGNCI NTVGSFECRC PAGHKQSETT QKCEDIDECS IIPGICETGE
CSNTVGSYFC VCPRGYVTST DGSRCIDQRT GMCFSGLVNG RCAQELPGRM TKMQCCCEPG
RCWGIGTIPE ACPVRGSEEY RRLCMDGLPM GGIPGSAGSR PGGTGGNGFA PSGNGNGYGP
GGTGFIPIPG GNGFSPGVGG AGVGAGGQGP IITGLTILNQ TIDICKHHAN LCLNGRCIPT
VSSYRCECNM GYKQDANGDC IDVDECTSNP CTNGDCVNTP GSYYCKCHAG FQRTPTKQAC
IDIDECIQNG VLCKNGRCVN TDGSFQCICN AGFELTTDGK NCVDHDECTT TNMCLNGMCI
NEDGSFKCIC KPGFVLAPNG RYCTDVDECQ TPGICMNGHC INSEGSFRCD CPPGLAVGMD
GRVCVDTHMR STCYGGIKKG VCVRPFPGAV TKSECCCANP DYGFGEPCQP CPAKNSAEFH
GLCSSGVGIT VDGRDINECA LDPDICANGI CENLRGSYRC NCNSGYEPDA SGRNCIDIDE
CLVNRLLCDN GLCRNTPGSY SCTCPPGYVF RTETETCEDI NECESNPCVN GACRNNLGSF
NCECSPGSKL SSTGLICIDS LKGTCWLNIQ DSRCEVNING ATLKSECCAT LGAAWGSPCE
RCELDTACPR GLARIKGVTC EDVNECEVFP GVCPNGRCVN SKGSFHCECP EGLTLDGTGR
VCLDIRMEQC YLKWDEDECI HPVPGKFRMD ACCCAVGAAW GTECEECPKP GTKEYETLCP
RGAGFANRGD VLTGRPFYKD INECKAFPGM CTYGKCRNTI GSFKCRCNSG FALDMEERNC
TDIDECRISP DLCGSGICVN TPGSFECECF EGYESGFMMM KNCMDIDECE RNPLLCRGGT
CVNTEGSFQC DCPLGHELSP SREDCVDINE CSLSDNLCRN GKCVNMIGTY QCSCNPGYQA
TPDRQGCTDI DECMIMNGGY DTQCTNSEGS YECSCSEGYA LMPDGRSCAD IDECENNPDI
CDGGQCTNIP GEYRCLCYDG FMASMDMKTC IDVNECDLNS NICMFGECEN TKGSFICHCQ
LGYSVKKGTT GCTDVDECEI GAHNCDMHAS CLNIPGSFKC SCREGWIGNG IKCIDLDECS
NGTHQCSINA QCVNTPGSYR CACSEGFTGD GFTCSDVDEC AENINLCENG QCLNVPGAYR
CECEMGFTPA SDSRSCQGGS PGFQLIFKLD QPQ*
speed 1.73 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
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999977445 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950454)
  • known disease mutation: rs519 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:127671236C>TN/A show variant in all transcripts   IGV
HGNC symbol FBN2
Ensembl transcript ID ENST00000508053
Genbank transcript ID N/A
UniProt peptide P35556
alteration type single base exchange
alteration region CDS
DNA changes c.3758G>A
cDNA.4733G>A
g.323643G>A
AA changes C1253Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1253
frameshift no
known variant Reference ID: rs137852825
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs519 (pathogenic for Congenital contractural arachnodactyly) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950454)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950454)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950454)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0150.985
6.1081
(flanking)5.0461
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 increased323647wt: 0.2884 / mu: 0.3115 (marginal change - not scored)wt: TGTGACACCCAGTGC
mu: TATGACACCCAGTGC
 TGAC|accc
Donor gained3236390.65mu: ACGGAGGCTATGACA GGAG|gcta
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1253DIDECMIMNGGCDTQCTNSEGSYE
mutated  not conserved    1253DIDECMIMNGGYDTQCTNS
Ptroglodytes  all identical  ENSPTRG00000017200  1332DVDECEIGAHNCDMHASCLNIPGSF
Mmulatta  all identical  ENSMMUG00000010682  1253DIDECMIMNGGCDTQCTNS
Fcatus  all identical  ENSFCAG00000009685  1235DIDECMIMNGGCDTRCTNSEGSY
Mmusculus  all identical  ENSMUSG00000024598  1246DIDECMIMNGGCDTQCTNS
Ggallus  all identical  ENSGALG00000014686  1251ECMIMNGGCDTHCTNSEGSY
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0051999  664DIDECQVIPGLCQQKCLNFWGGY
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000032535  1150DIDECTIMNGGCDTHCTNSEGSY
protein features
start (aa)end (aa)featuredetails 
12421282DOMAINEGF-like 19; calcium-binding.lost
12531253DISULFIDBy similarity.lost
12571257DISULFIDBy similarity.might get lost (downstream of altered splice site)
12661266DISULFIDBy similarity.might get lost (downstream of altered splice site)
12681268DISULFIDBy similarity.might get lost (downstream of altered splice site)
12811281DISULFIDBy similarity.might get lost (downstream of altered splice site)
12831324DOMAINEGF-like 20; calcium-binding.might get lost (downstream of altered splice site)
12871287DISULFIDBy similarity.might get lost (downstream of altered splice site)
12941294DISULFIDBy similarity.might get lost (downstream of altered splice site)
12991299DISULFIDBy similarity.might get lost (downstream of altered splice site)
13081308DISULFIDBy similarity.might get lost (downstream of altered splice site)
13101310DISULFIDBy similarity.might get lost (downstream of altered splice site)
13231323DISULFIDBy similarity.might get lost (downstream of altered splice site)
13251366DOMAINEGF-like 21; calcium-binding.might get lost (downstream of altered splice site)
13291329DISULFIDBy similarity.might get lost (downstream of altered splice site)
13361336DISULFIDBy similarity.might get lost (downstream of altered splice site)
13411341DISULFIDBy similarity.might get lost (downstream of altered splice site)
13501350DISULFIDBy similarity.might get lost (downstream of altered splice site)
13521352DISULFIDBy similarity.might get lost (downstream of altered splice site)
13651365DISULFIDBy similarity.might get lost (downstream of altered splice site)
13671407DOMAINEGF-like 22; calcium-binding.might get lost (downstream of altered splice site)
13711371DISULFIDBy similarity.might get lost (downstream of altered splice site)
13781378DISULFIDBy similarity.might get lost (downstream of altered splice site)
13841384DISULFIDBy similarity.might get lost (downstream of altered splice site)
13931393DISULFIDBy similarity.might get lost (downstream of altered splice site)
13951395DISULFIDBy similarity.might get lost (downstream of altered splice site)
14061406DISULFIDBy similarity.might get lost (downstream of altered splice site)
14081448DOMAINEGF-like 23; calcium-binding.might get lost (downstream of altered splice site)
14091409CONFLICTL -> R (in Ref. 4; CAB56757).might get lost (downstream of altered splice site)
14121412DISULFIDBy similarity.might get lost (downstream of altered splice site)
14141414CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
14191419DISULFIDBy similarity.might get lost (downstream of altered splice site)
14251425DISULFIDBy similarity.might get lost (downstream of altered splice site)
14341434DISULFIDBy similarity.might get lost (downstream of altered splice site)
14361436DISULFIDBy similarity.might get lost (downstream of altered splice site)
14471447DISULFIDBy similarity.might get lost (downstream of altered splice site)
14491490DOMAINEGF-like 24; calcium-binding.might get lost (downstream of altered splice site)
14531453DISULFIDBy similarity.might get lost (downstream of altered splice site)
14601460DISULFIDBy similarity.might get lost (downstream of altered splice site)
14651465DISULFIDBy similarity.might get lost (downstream of altered splice site)
14741474DISULFIDBy similarity.might get lost (downstream of altered splice site)
14761476DISULFIDBy similarity.might get lost (downstream of altered splice site)
14891489DISULFIDBy similarity.might get lost (downstream of altered splice site)
14911531DOMAINEGF-like 25; calcium-binding.might get lost (downstream of altered splice site)
14951495DISULFIDBy similarity.might get lost (downstream of altered splice site)
15011501DISULFIDBy similarity.might get lost (downstream of altered splice site)
15031503CONFLICTF -> S (in Ref. 1; AAA18950).might get lost (downstream of altered splice site)
15061506DISULFIDBy similarity.might get lost (downstream of altered splice site)
15151515DISULFIDBy similarity.might get lost (downstream of altered splice site)
15171517DISULFIDBy similarity.might get lost (downstream of altered splice site)
15291529CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15301530DISULFIDBy similarity.might get lost (downstream of altered splice site)
15321572DOMAINEGF-like 26; calcium-binding.might get lost (downstream of altered splice site)
15361536DISULFIDBy similarity.might get lost (downstream of altered splice site)
15421542DISULFIDBy similarity.might get lost (downstream of altered splice site)
15471547DISULFIDBy similarity.might get lost (downstream of altered splice site)
15561556DISULFIDBy similarity.might get lost (downstream of altered splice site)
15581558DISULFIDBy similarity.might get lost (downstream of altered splice site)
15711571DISULFIDBy similarity.might get lost (downstream of altered splice site)
15771633DOMAINTB 6.might get lost (downstream of altered splice site)
16251625CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16501691DOMAINEGF-like 27; calcium-binding.might get lost (downstream of altered splice site)
16541654DISULFIDBy similarity.might get lost (downstream of altered splice site)
16611661DISULFIDBy similarity.might get lost (downstream of altered splice site)
16661666DISULFIDBy similarity.might get lost (downstream of altered splice site)
16751675DISULFIDBy similarity.might get lost (downstream of altered splice site)
16771677DISULFIDBy similarity.might get lost (downstream of altered splice site)
16901690DISULFIDBy similarity.might get lost (downstream of altered splice site)
16921733DOMAINEGF-like 28; calcium-binding.might get lost (downstream of altered splice site)
16961696DISULFIDBy similarity.might get lost (downstream of altered splice site)
17031703DISULFIDBy similarity.might get lost (downstream of altered splice site)
17081708DISULFIDBy similarity.might get lost (downstream of altered splice site)
17141714CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17171717DISULFIDBy similarity.might get lost (downstream of altered splice site)
17191719DISULFIDBy similarity.might get lost (downstream of altered splice site)
17321732DISULFIDBy similarity.might get lost (downstream of altered splice site)
17381791DOMAINTB 7.might get lost (downstream of altered splice site)
17451745CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17561756CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18081849DOMAINEGF-like 29; calcium-binding.might get lost (downstream of altered splice site)
18121812DISULFIDBy similarity.might get lost (downstream of altered splice site)
18191819DISULFIDBy similarity.might get lost (downstream of altered splice site)
18241824DISULFIDBy similarity.might get lost (downstream of altered splice site)
18331833DISULFIDBy similarity.might get lost (downstream of altered splice site)
18351835DISULFIDBy similarity.might get lost (downstream of altered splice site)
18481848DISULFIDBy similarity.might get lost (downstream of altered splice site)
18501891DOMAINEGF-like 30; calcium-binding.might get lost (downstream of altered splice site)
18541854DISULFIDBy similarity.might get lost (downstream of altered splice site)
18611861DISULFIDBy similarity.might get lost (downstream of altered splice site)
18671867DISULFIDBy similarity.might get lost (downstream of altered splice site)
18761876DISULFIDBy similarity.might get lost (downstream of altered splice site)
18781878DISULFIDBy similarity.might get lost (downstream of altered splice site)
18901890DISULFIDBy similarity.might get lost (downstream of altered splice site)
18921933DOMAINEGF-like 31; calcium-binding.might get lost (downstream of altered splice site)
18961896DISULFIDBy similarity.might get lost (downstream of altered splice site)
19031903DISULFIDBy similarity.might get lost (downstream of altered splice site)
19081908DISULFIDBy similarity.might get lost (downstream of altered splice site)
19171917DISULFIDBy similarity.might get lost (downstream of altered splice site)
19191919DISULFIDBy similarity.might get lost (downstream of altered splice site)
19321932DISULFIDBy similarity.might get lost (downstream of altered splice site)
19341972DOMAINEGF-like 32; calcium-binding.might get lost (downstream of altered splice site)
19381938DISULFIDBy similarity.might get lost (downstream of altered splice site)
19431943DISULFIDBy similarity.might get lost (downstream of altered splice site)
19451945CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19481948DISULFIDBy similarity.might get lost (downstream of altered splice site)
19571957DISULFIDBy similarity.might get lost (downstream of altered splice site)
19591959DISULFIDBy similarity.might get lost (downstream of altered splice site)
19711971DISULFIDBy similarity.might get lost (downstream of altered splice site)
19732015DOMAINEGF-like 33; calcium-binding.might get lost (downstream of altered splice site)
19771977DISULFIDBy similarity.might get lost (downstream of altered splice site)
19851985DISULFIDBy similarity.might get lost (downstream of altered splice site)
19901990DISULFIDBy similarity.might get lost (downstream of altered splice site)
19991999DISULFIDBy similarity.might get lost (downstream of altered splice site)
20012001DISULFIDBy similarity.might get lost (downstream of altered splice site)
20142014DISULFIDBy similarity.might get lost (downstream of altered splice site)
20162055DOMAINEGF-like 34; calcium-binding.might get lost (downstream of altered splice site)
20202020DISULFIDBy similarity.might get lost (downstream of altered splice site)
20272027DISULFIDBy similarity.might get lost (downstream of altered splice site)
20322032DISULFIDBy similarity.might get lost (downstream of altered splice site)
20412041DISULFIDBy similarity.might get lost (downstream of altered splice site)
20432043DISULFIDBy similarity.might get lost (downstream of altered splice site)
20542054DISULFIDBy similarity.might get lost (downstream of altered splice site)
20562097DOMAINEGF-like 35; calcium-binding.might get lost (downstream of altered splice site)
20602060DISULFIDBy similarity.might get lost (downstream of altered splice site)
20672067DISULFIDBy similarity.might get lost (downstream of altered splice site)
20722072DISULFIDBy similarity.might get lost (downstream of altered splice site)
20812081DISULFIDBy similarity.might get lost (downstream of altered splice site)
20832083DISULFIDBy similarity.might get lost (downstream of altered splice site)
20962096DISULFIDBy similarity.might get lost (downstream of altered splice site)
21022155DOMAINTB 8.might get lost (downstream of altered splice site)
21202120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
21712212DOMAINEGF-like 36; calcium-binding.might get lost (downstream of altered splice site)
21752175DISULFIDBy similarity.might get lost (downstream of altered splice site)
21822182DISULFIDBy similarity.might get lost (downstream of altered splice site)
21872187DISULFIDBy similarity.might get lost (downstream of altered splice site)
21962196DISULFIDBy similarity.might get lost (downstream of altered splice site)
21982198DISULFIDBy similarity.might get lost (downstream of altered splice site)
22112211DISULFIDBy similarity.might get lost (downstream of altered splice site)
22132252DOMAINEGF-like 37; calcium-binding.might get lost (downstream of altered splice site)
22172217DISULFIDBy similarity.might get lost (downstream of altered splice site)
22232223DISULFIDBy similarity.might get lost (downstream of altered splice site)
22252225CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22282228DISULFIDBy similarity.might get lost (downstream of altered splice site)
22372237DISULFIDBy similarity.might get lost (downstream of altered splice site)
22392239DISULFIDBy similarity.might get lost (downstream of altered splice site)
22512251DISULFIDBy similarity.might get lost (downstream of altered splice site)
22532293DOMAINEGF-like 38; calcium-binding.might get lost (downstream of altered splice site)
22572257DISULFIDBy similarity.might get lost (downstream of altered splice site)
22642264DISULFIDBy similarity.might get lost (downstream of altered splice site)
22682268DISULFIDBy similarity.might get lost (downstream of altered splice site)
22772277DISULFIDBy similarity.might get lost (downstream of altered splice site)
22792279DISULFIDBy similarity.might get lost (downstream of altered splice site)
22922292DISULFIDBy similarity.might get lost (downstream of altered splice site)
22942337DOMAINEGF-like 39; calcium-binding.might get lost (downstream of altered splice site)
22982298DISULFIDBy similarity.might get lost (downstream of altered splice site)
23052305DISULFIDBy similarity.might get lost (downstream of altered splice site)
23122312DISULFIDBy similarity.might get lost (downstream of altered splice site)
23212321DISULFIDBy similarity.might get lost (downstream of altered splice site)
23232323DISULFIDBy similarity.might get lost (downstream of altered splice site)
23362336DISULFIDBy similarity.might get lost (downstream of altered splice site)
23382379DOMAINEGF-like 40; calcium-binding.might get lost (downstream of altered splice site)
23422342DISULFIDBy similarity.might get lost (downstream of altered splice site)
23492349DISULFIDBy similarity.might get lost (downstream of altered splice site)
23542354DISULFIDBy similarity.might get lost (downstream of altered splice site)
23632363DISULFIDBy similarity.might get lost (downstream of altered splice site)
23652365DISULFIDBy similarity.might get lost (downstream of altered splice site)
23782378DISULFIDBy similarity.might get lost (downstream of altered splice site)
23842437DOMAINTB 9.might get lost (downstream of altered splice site)
24492490DOMAINEGF-like 41; calcium-binding.might get lost (downstream of altered splice site)
24532453DISULFIDBy similarity.might get lost (downstream of altered splice site)
24602460DISULFIDBy similarity.might get lost (downstream of altered splice site)
24652465DISULFIDBy similarity.might get lost (downstream of altered splice site)
24742474DISULFIDBy similarity.might get lost (downstream of altered splice site)
24762476DISULFIDBy similarity.might get lost (downstream of altered splice site)
24892489DISULFIDBy similarity.might get lost (downstream of altered splice site)
24912531DOMAINEGF-like 42; calcium-binding.might get lost (downstream of altered splice site)
24952495DISULFIDBy similarity.might get lost (downstream of altered splice site)
25022502DISULFIDBy similarity.might get lost (downstream of altered splice site)
25062506DISULFIDBy similarity.might get lost (downstream of altered splice site)
25152515DISULFIDBy similarity.might get lost (downstream of altered splice site)
25172517DISULFIDBy similarity.might get lost (downstream of altered splice site)
25302530DISULFIDBy similarity.might get lost (downstream of altered splice site)
25322570DOMAINEGF-like 43; calcium-binding.might get lost (downstream of altered splice site)
25362536DISULFIDBy similarity.might get lost (downstream of altered splice site)
25432543DISULFIDBy similarity.might get lost (downstream of altered splice site)
25472547DISULFIDBy similarity.might get lost (downstream of altered splice site)
25562556DISULFIDBy similarity.might get lost (downstream of altered splice site)
25582558DISULFIDBy similarity.might get lost (downstream of altered splice site)
25692569DISULFIDBy similarity.might get lost (downstream of altered splice site)
25712613DOMAINEGF-like 44; calcium-binding.might get lost (downstream of altered splice site)
25752575DISULFIDBy similarity.might get lost (downstream of altered splice site)
25822582DISULFIDBy similarity.might get lost (downstream of altered splice site)
25842584CONFLICTA -> G (in Ref. 1; AAA18950).might get lost (downstream of altered splice site)
25882588DISULFIDBy similarity.might get lost (downstream of altered splice site)
25972597DISULFIDBy similarity.might get lost (downstream of altered splice site)
25992599DISULFIDBy similarity.might get lost (downstream of altered splice site)
26122612DISULFIDBy similarity.might get lost (downstream of altered splice site)
26142653DOMAINEGF-like 45; calcium-binding.might get lost (downstream of altered splice site)
26182618DISULFIDBy similarity.might get lost (downstream of altered splice site)
26242624DISULFIDBy similarity.might get lost (downstream of altered splice site)
26282628DISULFIDBy similarity.might get lost (downstream of altered splice site)
26372637DISULFIDBy similarity.might get lost (downstream of altered splice site)
26392639DISULFIDBy similarity.might get lost (downstream of altered splice site)
26522652DISULFIDBy similarity.might get lost (downstream of altered splice site)
26542694DOMAINEGF-like 46; calcium-binding.might get lost (downstream of altered splice site)
26582658DISULFIDBy similarity.might get lost (downstream of altered splice site)
26642664DISULFIDBy similarity.might get lost (downstream of altered splice site)
26692669DISULFIDBy similarity.might get lost (downstream of altered splice site)
26782678DISULFIDBy similarity.might get lost (downstream of altered splice site)
26802680DISULFIDBy similarity.might get lost (downstream of altered splice site)
26932693DISULFIDBy similarity.might get lost (downstream of altered splice site)
26952734DOMAINEGF-like 47; calcium-binding.might get lost (downstream of altered splice site)
26992699DISULFIDBy similarity.might get lost (downstream of altered splice site)
27062706DISULFIDBy similarity.might get lost (downstream of altered splice site)
27102710DISULFIDBy similarity.might get lost (downstream of altered splice site)
27192719DISULFIDBy similarity.might get lost (downstream of altered splice site)
27212721DISULFIDBy similarity.might get lost (downstream of altered splice site)
27332733DISULFIDBy similarity.might get lost (downstream of altered splice site)
28082808CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8739 / 8739
position (AA) of stopcodon in wt / mu AA sequence 2913 / 2913
position of stopcodon in wt / mu cDNA 9714 / 9714
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 976 / 976
chromosome 5
strand -1
last intron/exon boundary 9340
theoretical NMD boundary in CDS 8314
length of CDS 8739
coding sequence (CDS) position 3758
cDNA position
(for ins/del: last normal base / first normal base)
4733
gDNA position
(for ins/del: last normal base / first normal base)
323643
chromosomal position
(for ins/del: last normal base / first normal base)
127671236
original gDNA sequence snippet TATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATT
altered gDNA sequence snippet TATGATAATGAACGGAGGCTATGACACCCAGTGCACAAATT
original cDNA sequence snippet TATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATT
altered cDNA sequence snippet TATGATAATGAACGGAGGCTATGACACCCAGTGCACAAATT
wildtype AA sequence MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA TAGSEGGFLA
PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG WKTLPGGNQC IVPICRNSCG
DGFCSRPNMC TCSSGQISST CGSKSIQQCS VRCMNGGTCA DDHCQCQKGY IGTYCGQPVC
ENGCQNGGRC IGPNRCACVY GFTGPQCERD YRTGPCFTQV NNQMCQGQLT GIVCTKTLCC
ATIGRAWGHP CEMCPAQPQP CRRGFIPNIR TGACQDVDEC QAIPGICQGG NCINTVGSFE
CRCPAGHKQS ETTQKCEDID ECSIIPGICE TGECSNTVGS YFCVCPRGYV TSTDGSRCID
QRTGMCFSGL VNGRCAQELP GRMTKMQCCC EPGRCWGIGT IPEACPVRGS EEYRRLCMDG
LPMGGIPGSA GSRPGGTGGN GFAPSGNGNG YGPGGTGFIP IPGGNGFSPG VGGAGVGAGG
QGPIITGLTI LNQTIDICKH HANLCLNGRC IPTVSSYRCE CNMGYKQDAN GDCIDVDECT
SNPCTNGDCV NTPGSYYCKC HAGFQRTPTK QACIDIDECI QNGVLCKNGR CVNTDGSFQC
ICNAGFELTT DGKNCVDHDE CTTTNMCLNG MCINEDGSFK CICKPGFVLA PNGRYCTDVD
ECQTPGICMN GHCINSEGSF RCDCPPGLAV GMDGRVCVDT HMRSTCYGGI KKGVCVRPFP
GAVTKSECCC ANPDYGFGEP CQPCPAKNSA EFHGLCSSGV GITVDGRDIN ECALDPDICA
NGICENLRGS YRCNCNSGYE PDASGRNCID IDECLVNRLL CDNGLCRNTP GSYSCTCPPG
YVFRTETETC EDINECESNP CVNGACRNNL GSFNCECSPG SKLSSTGLIC IDSLKGTCWL
NIQDSRCEVN INGATLKSEC CATLGAAWGS PCERCELDTA CPRGLARIKG VTCEDVNECE
VFPGVCPNGR CVNSKGSFHC ECPEGLTLDG TGRVCLDIRM EQCYLKWDED ECIHPVPGKF
RMDACCCAVG AAWGTECEEC PKPGTKEYET LCPRGAGFAN RGDVLTGRPF YKDINECKAF
PGMCTYGKCR NTIGSFKCRC NSGFALDMEE RNCTDIDECR ISPDLCGSGI CVNTPGSFEC
ECFEGYESGF MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD
INECSLSDNL CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGCDTQCTNS
EGSYECSCSE GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM
KTCIDVNECD LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM
HASCLNIPGS FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF
TGDGFTCSDV DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ DIDECSFQNI
CVFGTCNNLP GMFHCICDDG YELDRTGGNC TDIDECADPI NCVNGLCVNT PGRYECNCPP
DFQLNPTGVG CVDNRVGNCY LKFGPRGDGS LSCNTEIGVG VSRSSCCCSL GKAWGNPCET
CPPVNSTEYY TLCPGGEGFR PNPITIILED IDECQELPGL CQGGNCINTF GSFQCECPQG
YYLSEDTRIC EDIDECFAHP GVCGPGTCYN TLGNYTCICP PEYMQVNGGH NCMDMRKSFC
YRSYNGTTCE NELPFNVTKR MCCCTYNVGK AWNKPCEPCP TPGTADFKTI CGNIPGFTFD
IHTGKAVDID ECKEIPGICA NGVCINQIGS FRCECPTGFS YNDLLLVCED IDECSNGDNL
CQRNADCINS PGSYRCECAA GFKLSPNGAC VDRNECLEIP NVCSHGLCVD LQGSYQCICH
NGFKASQDQT MCMDVDECER HPCGNGTCKN TVGSYNCLCY PGFELTHNND CLDIDECSSF
FGQVCRNGRC FNEIGSFKCL CNEGYELTPD GKNCIDTNEC VALPGSCSPG TCQNLEGSFR
CICPPGYEVK SENCIDINEC DEDPNICLFG SCTNTPGGFQ CLCPPGFVLS DNGRRCFDTR
QSFCFTNFEN GKCSVPKAFN TTKAKCCCSK MPGEGWGDPC ELCPKDDEVA FQDLCPYGHG
TVPSLHDTRE DVNECLESPG ICSNGQCINT DGSFRCECPM GYNLDYTGVR CVDTDECSIG
NPCGNGTCTN VIGSFECNCN EGFEPGPMMN CEDINECAQN PLLCAFRCMN TFGSYECTCP
IGYALREDQK MCKDLDECAE GLHDCESRGM MCKNLIGTFM CICPPGMARR PDGEGCVDEN
ECRTKPGICE NGRCVNIIGS YRCECNEGFQ SSSSGTECLD NRQGLCFAEV LQTICQMASS
SRNLVTKSEC CCDGGRGWGH QCELCPLPGT AQYKKICPHG PGYTTDGRDI DECKVMPNLC
TNGQCINTMG SFRCFCKVGY TTDISGTSCI DLDECSQSPK PCNYICKNTE GSYQCSCPRG
YVLQEDGKTC KDLDECQTKQ HNCQFLCVNT LGGFTCKCPP GFTQHHTACI DNNECGSQPS
LCGAKGICQN TPGSFSCECQ RGFSLDATGL NCEDVDECDG NHRCQHGCQN ILGGYRCGCP
QGYIQHYQWN QCVDENECSN PNACGSASCY NTLGSYKCAC PSGFSFDQFS SACHDVNECS
SSKNPCNYGC SNTEGGYLCG CPPGYYRVGQ GHCVSGMGFN KGQYLSLDTE VDEENALSPE
ACYECKINGY SKKDSRQKRS IHEPDPTAVE QISLESVDMD SPVNMKFNLS HLGSKEHILE
LRPAIQPLNN HIRYVISQGN DDSVFRIHQR NGLSYLHTAK KKLMPGTYTL EITSIPLYKK
KELKKLEESN EDDYLLGELG EALRMRLQIQ LY*
mutated AA sequence MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA TAGSEGGFLA
PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG WKTLPGGNQC IVPICRNSCG
DGFCSRPNMC TCSSGQISST CGSKSIQQCS VRCMNGGTCA DDHCQCQKGY IGTYCGQPVC
ENGCQNGGRC IGPNRCACVY GFTGPQCERD YRTGPCFTQV NNQMCQGQLT GIVCTKTLCC
ATIGRAWGHP CEMCPAQPQP CRRGFIPNIR TGACQDVDEC QAIPGICQGG NCINTVGSFE
CRCPAGHKQS ETTQKCEDID ECSIIPGICE TGECSNTVGS YFCVCPRGYV TSTDGSRCID
QRTGMCFSGL VNGRCAQELP GRMTKMQCCC EPGRCWGIGT IPEACPVRGS EEYRRLCMDG
LPMGGIPGSA GSRPGGTGGN GFAPSGNGNG YGPGGTGFIP IPGGNGFSPG VGGAGVGAGG
QGPIITGLTI LNQTIDICKH HANLCLNGRC IPTVSSYRCE CNMGYKQDAN GDCIDVDECT
SNPCTNGDCV NTPGSYYCKC HAGFQRTPTK QACIDIDECI QNGVLCKNGR CVNTDGSFQC
ICNAGFELTT DGKNCVDHDE CTTTNMCLNG MCINEDGSFK CICKPGFVLA PNGRYCTDVD
ECQTPGICMN GHCINSEGSF RCDCPPGLAV GMDGRVCVDT HMRSTCYGGI KKGVCVRPFP
GAVTKSECCC ANPDYGFGEP CQPCPAKNSA EFHGLCSSGV GITVDGRDIN ECALDPDICA
NGICENLRGS YRCNCNSGYE PDASGRNCID IDECLVNRLL CDNGLCRNTP GSYSCTCPPG
YVFRTETETC EDINECESNP CVNGACRNNL GSFNCECSPG SKLSSTGLIC IDSLKGTCWL
NIQDSRCEVN INGATLKSEC CATLGAAWGS PCERCELDTA CPRGLARIKG VTCEDVNECE
VFPGVCPNGR CVNSKGSFHC ECPEGLTLDG TGRVCLDIRM EQCYLKWDED ECIHPVPGKF
RMDACCCAVG AAWGTECEEC PKPGTKEYET LCPRGAGFAN RGDVLTGRPF YKDINECKAF
PGMCTYGKCR NTIGSFKCRC NSGFALDMEE RNCTDIDECR ISPDLCGSGI CVNTPGSFEC
ECFEGYESGF MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD
INECSLSDNL CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGYDTQCTNS
EGSYECSCSE GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM
KTCIDVNECD LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM
HASCLNIPGS FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF
TGDGFTCSDV DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ DIDECSFQNI
CVFGTCNNLP GMFHCICDDG YELDRTGGNC TDIDECADPI NCVNGLCVNT PGRYECNCPP
DFQLNPTGVG CVDNRVGNCY LKFGPRGDGS LSCNTEIGVG VSRSSCCCSL GKAWGNPCET
CPPVNSTEYY TLCPGGEGFR PNPITIILED IDECQELPGL CQGGNCINTF GSFQCECPQG
YYLSEDTRIC EDIDECFAHP GVCGPGTCYN TLGNYTCICP PEYMQVNGGH NCMDMRKSFC
YRSYNGTTCE NELPFNVTKR MCCCTYNVGK AWNKPCEPCP TPGTADFKTI CGNIPGFTFD
IHTGKAVDID ECKEIPGICA NGVCINQIGS FRCECPTGFS YNDLLLVCED IDECSNGDNL
CQRNADCINS PGSYRCECAA GFKLSPNGAC VDRNECLEIP NVCSHGLCVD LQGSYQCICH
NGFKASQDQT MCMDVDECER HPCGNGTCKN TVGSYNCLCY PGFELTHNND CLDIDECSSF
FGQVCRNGRC FNEIGSFKCL CNEGYELTPD GKNCIDTNEC VALPGSCSPG TCQNLEGSFR
CICPPGYEVK SENCIDINEC DEDPNICLFG SCTNTPGGFQ CLCPPGFVLS DNGRRCFDTR
QSFCFTNFEN GKCSVPKAFN TTKAKCCCSK MPGEGWGDPC ELCPKDDEVA FQDLCPYGHG
TVPSLHDTRE DVNECLESPG ICSNGQCINT DGSFRCECPM GYNLDYTGVR CVDTDECSIG
NPCGNGTCTN VIGSFECNCN EGFEPGPMMN CEDINECAQN PLLCAFRCMN TFGSYECTCP
IGYALREDQK MCKDLDECAE GLHDCESRGM MCKNLIGTFM CICPPGMARR PDGEGCVDEN
ECRTKPGICE NGRCVNIIGS YRCECNEGFQ SSSSGTECLD NRQGLCFAEV LQTICQMASS
SRNLVTKSEC CCDGGRGWGH QCELCPLPGT AQYKKICPHG PGYTTDGRDI DECKVMPNLC
TNGQCINTMG SFRCFCKVGY TTDISGTSCI DLDECSQSPK PCNYICKNTE GSYQCSCPRG
YVLQEDGKTC KDLDECQTKQ HNCQFLCVNT LGGFTCKCPP GFTQHHTACI DNNECGSQPS
LCGAKGICQN TPGSFSCECQ RGFSLDATGL NCEDVDECDG NHRCQHGCQN ILGGYRCGCP
QGYIQHYQWN QCVDENECSN PNACGSASCY NTLGSYKCAC PSGFSFDQFS SACHDVNECS
SSKNPCNYGC SNTEGGYLCG CPPGYYRVGQ GHCVSGMGFN KGQYLSLDTE VDEENALSPE
ACYECKINGY SKKDSRQKRS IHEPDPTAVE QISLESVDMD SPVNMKFNLS HLGSKEHILE
LRPAIQPLNN HIRYVISQGN DDSVFRIHQR NGLSYLHTAK KKLMPGTYTL EITSIPLYKK
KELKKLEESN EDDYLLGELG EALRMRLQIQ LY*
speed 1.52 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
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999977445 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950454)
  • known disease mutation: rs519 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:127671236C>TN/A show variant in all transcripts   IGV
HGNC symbol FBN2
Ensembl transcript ID ENST00000262464
Genbank transcript ID NM_001999
UniProt peptide P35556
alteration type single base exchange
alteration region CDS
DNA changes c.3758G>A
cDNA.4197G>A
g.323643G>A
AA changes C1253Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1253
frameshift no
known variant Reference ID: rs137852825
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs519 (pathogenic for Congenital contractural arachnodactyly) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950454)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950454)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950454)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0150.985
6.1081
(flanking)5.0461
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 increased323647wt: 0.2884 / mu: 0.3115 (marginal change - not scored)wt: TGTGACACCCAGTGC
mu: TATGACACCCAGTGC
 TGAC|accc
Donor gained3236390.65mu: ACGGAGGCTATGACA GGAG|gcta
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1253DIDECMIMNGGCDTQCTNSEGSYE
mutated  not conserved    1253DIDECMIMNGGYDTQCTNS
Ptroglodytes  all identical  ENSPTRG00000017200  1332DVDECEIGAHNCDMHASCLNIPGSF
Mmulatta  all identical  ENSMMUG00000010682  1253DIDECMIMNGGCDTQCTNS
Fcatus  all identical  ENSFCAG00000009685  1235DIDECMIMNGGCDTRCTNSEGSY
Mmusculus  all identical  ENSMUSG00000024598  1246DIDECMIMNGGCDTQCTNS
Ggallus  all identical  ENSGALG00000014686  1251ECMIMNGGCDTHCTNSEGSY
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0051999  664DIDECQVIPGLCQQKCLNFWGGY
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000032535  1150DIDECTIMNGGCDTHCTNSEGSY
protein features
start (aa)end (aa)featuredetails 
12421282DOMAINEGF-like 19; calcium-binding.lost
12531253DISULFIDBy similarity.lost
12571257DISULFIDBy similarity.might get lost (downstream of altered splice site)
12661266DISULFIDBy similarity.might get lost (downstream of altered splice site)
12681268DISULFIDBy similarity.might get lost (downstream of altered splice site)
12811281DISULFIDBy similarity.might get lost (downstream of altered splice site)
12831324DOMAINEGF-like 20; calcium-binding.might get lost (downstream of altered splice site)
12871287DISULFIDBy similarity.might get lost (downstream of altered splice site)
12941294DISULFIDBy similarity.might get lost (downstream of altered splice site)
12991299DISULFIDBy similarity.might get lost (downstream of altered splice site)
13081308DISULFIDBy similarity.might get lost (downstream of altered splice site)
13101310DISULFIDBy similarity.might get lost (downstream of altered splice site)
13231323DISULFIDBy similarity.might get lost (downstream of altered splice site)
13251366DOMAINEGF-like 21; calcium-binding.might get lost (downstream of altered splice site)
13291329DISULFIDBy similarity.might get lost (downstream of altered splice site)
13361336DISULFIDBy similarity.might get lost (downstream of altered splice site)
13411341DISULFIDBy similarity.might get lost (downstream of altered splice site)
13501350DISULFIDBy similarity.might get lost (downstream of altered splice site)
13521352DISULFIDBy similarity.might get lost (downstream of altered splice site)
13651365DISULFIDBy similarity.might get lost (downstream of altered splice site)
13671407DOMAINEGF-like 22; calcium-binding.might get lost (downstream of altered splice site)
13711371DISULFIDBy similarity.might get lost (downstream of altered splice site)
13781378DISULFIDBy similarity.might get lost (downstream of altered splice site)
13841384DISULFIDBy similarity.might get lost (downstream of altered splice site)
13931393DISULFIDBy similarity.might get lost (downstream of altered splice site)
13951395DISULFIDBy similarity.might get lost (downstream of altered splice site)
14061406DISULFIDBy similarity.might get lost (downstream of altered splice site)
14081448DOMAINEGF-like 23; calcium-binding.might get lost (downstream of altered splice site)
14091409CONFLICTL -> R (in Ref. 4; CAB56757).might get lost (downstream of altered splice site)
14121412DISULFIDBy similarity.might get lost (downstream of altered splice site)
14141414CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
14191419DISULFIDBy similarity.might get lost (downstream of altered splice site)
14251425DISULFIDBy similarity.might get lost (downstream of altered splice site)
14341434DISULFIDBy similarity.might get lost (downstream of altered splice site)
14361436DISULFIDBy similarity.might get lost (downstream of altered splice site)
14471447DISULFIDBy similarity.might get lost (downstream of altered splice site)
14491490DOMAINEGF-like 24; calcium-binding.might get lost (downstream of altered splice site)
14531453DISULFIDBy similarity.might get lost (downstream of altered splice site)
14601460DISULFIDBy similarity.might get lost (downstream of altered splice site)
14651465DISULFIDBy similarity.might get lost (downstream of altered splice site)
14741474DISULFIDBy similarity.might get lost (downstream of altered splice site)
14761476DISULFIDBy similarity.might get lost (downstream of altered splice site)
14891489DISULFIDBy similarity.might get lost (downstream of altered splice site)
14911531DOMAINEGF-like 25; calcium-binding.might get lost (downstream of altered splice site)
14951495DISULFIDBy similarity.might get lost (downstream of altered splice site)
15011501DISULFIDBy similarity.might get lost (downstream of altered splice site)
15031503CONFLICTF -> S (in Ref. 1; AAA18950).might get lost (downstream of altered splice site)
15061506DISULFIDBy similarity.might get lost (downstream of altered splice site)
15151515DISULFIDBy similarity.might get lost (downstream of altered splice site)
15171517DISULFIDBy similarity.might get lost (downstream of altered splice site)
15291529CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15301530DISULFIDBy similarity.might get lost (downstream of altered splice site)
15321572DOMAINEGF-like 26; calcium-binding.might get lost (downstream of altered splice site)
15361536DISULFIDBy similarity.might get lost (downstream of altered splice site)
15421542DISULFIDBy similarity.might get lost (downstream of altered splice site)
15471547DISULFIDBy similarity.might get lost (downstream of altered splice site)
15561556DISULFIDBy similarity.might get lost (downstream of altered splice site)
15581558DISULFIDBy similarity.might get lost (downstream of altered splice site)
15711571DISULFIDBy similarity.might get lost (downstream of altered splice site)
15771633DOMAINTB 6.might get lost (downstream of altered splice site)
16251625CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16501691DOMAINEGF-like 27; calcium-binding.might get lost (downstream of altered splice site)
16541654DISULFIDBy similarity.might get lost (downstream of altered splice site)
16611661DISULFIDBy similarity.might get lost (downstream of altered splice site)
16661666DISULFIDBy similarity.might get lost (downstream of altered splice site)
16751675DISULFIDBy similarity.might get lost (downstream of altered splice site)
16771677DISULFIDBy similarity.might get lost (downstream of altered splice site)
16901690DISULFIDBy similarity.might get lost (downstream of altered splice site)
16921733DOMAINEGF-like 28; calcium-binding.might get lost (downstream of altered splice site)
16961696DISULFIDBy similarity.might get lost (downstream of altered splice site)
17031703DISULFIDBy similarity.might get lost (downstream of altered splice site)
17081708DISULFIDBy similarity.might get lost (downstream of altered splice site)
17141714CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17171717DISULFIDBy similarity.might get lost (downstream of altered splice site)
17191719DISULFIDBy similarity.might get lost (downstream of altered splice site)
17321732DISULFIDBy similarity.might get lost (downstream of altered splice site)
17381791DOMAINTB 7.might get lost (downstream of altered splice site)
17451745CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17561756CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18081849DOMAINEGF-like 29; calcium-binding.might get lost (downstream of altered splice site)
18121812DISULFIDBy similarity.might get lost (downstream of altered splice site)
18191819DISULFIDBy similarity.might get lost (downstream of altered splice site)
18241824DISULFIDBy similarity.might get lost (downstream of altered splice site)
18331833DISULFIDBy similarity.might get lost (downstream of altered splice site)
18351835DISULFIDBy similarity.might get lost (downstream of altered splice site)
18481848DISULFIDBy similarity.might get lost (downstream of altered splice site)
18501891DOMAINEGF-like 30; calcium-binding.might get lost (downstream of altered splice site)
18541854DISULFIDBy similarity.might get lost (downstream of altered splice site)
18611861DISULFIDBy similarity.might get lost (downstream of altered splice site)
18671867DISULFIDBy similarity.might get lost (downstream of altered splice site)
18761876DISULFIDBy similarity.might get lost (downstream of altered splice site)
18781878DISULFIDBy similarity.might get lost (downstream of altered splice site)
18901890DISULFIDBy similarity.might get lost (downstream of altered splice site)
18921933DOMAINEGF-like 31; calcium-binding.might get lost (downstream of altered splice site)
18961896DISULFIDBy similarity.might get lost (downstream of altered splice site)
19031903DISULFIDBy similarity.might get lost (downstream of altered splice site)
19081908DISULFIDBy similarity.might get lost (downstream of altered splice site)
19171917DISULFIDBy similarity.might get lost (downstream of altered splice site)
19191919DISULFIDBy similarity.might get lost (downstream of altered splice site)
19321932DISULFIDBy similarity.might get lost (downstream of altered splice site)
19341972DOMAINEGF-like 32; calcium-binding.might get lost (downstream of altered splice site)
19381938DISULFIDBy similarity.might get lost (downstream of altered splice site)
19431943DISULFIDBy similarity.might get lost (downstream of altered splice site)
19451945CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19481948DISULFIDBy similarity.might get lost (downstream of altered splice site)
19571957DISULFIDBy similarity.might get lost (downstream of altered splice site)
19591959DISULFIDBy similarity.might get lost (downstream of altered splice site)
19711971DISULFIDBy similarity.might get lost (downstream of altered splice site)
19732015DOMAINEGF-like 33; calcium-binding.might get lost (downstream of altered splice site)
19771977DISULFIDBy similarity.might get lost (downstream of altered splice site)
19851985DISULFIDBy similarity.might get lost (downstream of altered splice site)
19901990DISULFIDBy similarity.might get lost (downstream of altered splice site)
19991999DISULFIDBy similarity.might get lost (downstream of altered splice site)
20012001DISULFIDBy similarity.might get lost (downstream of altered splice site)
20142014DISULFIDBy similarity.might get lost (downstream of altered splice site)
20162055DOMAINEGF-like 34; calcium-binding.might get lost (downstream of altered splice site)
20202020DISULFIDBy similarity.might get lost (downstream of altered splice site)
20272027DISULFIDBy similarity.might get lost (downstream of altered splice site)
20322032DISULFIDBy similarity.might get lost (downstream of altered splice site)
20412041DISULFIDBy similarity.might get lost (downstream of altered splice site)
20432043DISULFIDBy similarity.might get lost (downstream of altered splice site)
20542054DISULFIDBy similarity.might get lost (downstream of altered splice site)
20562097DOMAINEGF-like 35; calcium-binding.might get lost (downstream of altered splice site)
20602060DISULFIDBy similarity.might get lost (downstream of altered splice site)
20672067DISULFIDBy similarity.might get lost (downstream of altered splice site)
20722072DISULFIDBy similarity.might get lost (downstream of altered splice site)
20812081DISULFIDBy similarity.might get lost (downstream of altered splice site)
20832083DISULFIDBy similarity.might get lost (downstream of altered splice site)
20962096DISULFIDBy similarity.might get lost (downstream of altered splice site)
21022155DOMAINTB 8.might get lost (downstream of altered splice site)
21202120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
21712212DOMAINEGF-like 36; calcium-binding.might get lost (downstream of altered splice site)
21752175DISULFIDBy similarity.might get lost (downstream of altered splice site)
21822182DISULFIDBy similarity.might get lost (downstream of altered splice site)
21872187DISULFIDBy similarity.might get lost (downstream of altered splice site)
21962196DISULFIDBy similarity.might get lost (downstream of altered splice site)
21982198DISULFIDBy similarity.might get lost (downstream of altered splice site)
22112211DISULFIDBy similarity.might get lost (downstream of altered splice site)
22132252DOMAINEGF-like 37; calcium-binding.might get lost (downstream of altered splice site)
22172217DISULFIDBy similarity.might get lost (downstream of altered splice site)
22232223DISULFIDBy similarity.might get lost (downstream of altered splice site)
22252225CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22282228DISULFIDBy similarity.might get lost (downstream of altered splice site)
22372237DISULFIDBy similarity.might get lost (downstream of altered splice site)
22392239DISULFIDBy similarity.might get lost (downstream of altered splice site)
22512251DISULFIDBy similarity.might get lost (downstream of altered splice site)
22532293DOMAINEGF-like 38; calcium-binding.might get lost (downstream of altered splice site)
22572257DISULFIDBy similarity.might get lost (downstream of altered splice site)
22642264DISULFIDBy similarity.might get lost (downstream of altered splice site)
22682268DISULFIDBy similarity.might get lost (downstream of altered splice site)
22772277DISULFIDBy similarity.might get lost (downstream of altered splice site)
22792279DISULFIDBy similarity.might get lost (downstream of altered splice site)
22922292DISULFIDBy similarity.might get lost (downstream of altered splice site)
22942337DOMAINEGF-like 39; calcium-binding.might get lost (downstream of altered splice site)
22982298DISULFIDBy similarity.might get lost (downstream of altered splice site)
23052305DISULFIDBy similarity.might get lost (downstream of altered splice site)
23122312DISULFIDBy similarity.might get lost (downstream of altered splice site)
23212321DISULFIDBy similarity.might get lost (downstream of altered splice site)
23232323DISULFIDBy similarity.might get lost (downstream of altered splice site)
23362336DISULFIDBy similarity.might get lost (downstream of altered splice site)
23382379DOMAINEGF-like 40; calcium-binding.might get lost (downstream of altered splice site)
23422342DISULFIDBy similarity.might get lost (downstream of altered splice site)
23492349DISULFIDBy similarity.might get lost (downstream of altered splice site)
23542354DISULFIDBy similarity.might get lost (downstream of altered splice site)
23632363DISULFIDBy similarity.might get lost (downstream of altered splice site)
23652365DISULFIDBy similarity.might get lost (downstream of altered splice site)
23782378DISULFIDBy similarity.might get lost (downstream of altered splice site)
23842437DOMAINTB 9.might get lost (downstream of altered splice site)
24492490DOMAINEGF-like 41; calcium-binding.might get lost (downstream of altered splice site)
24532453DISULFIDBy similarity.might get lost (downstream of altered splice site)
24602460DISULFIDBy similarity.might get lost (downstream of altered splice site)
24652465DISULFIDBy similarity.might get lost (downstream of altered splice site)
24742474DISULFIDBy similarity.might get lost (downstream of altered splice site)
24762476DISULFIDBy similarity.might get lost (downstream of altered splice site)
24892489DISULFIDBy similarity.might get lost (downstream of altered splice site)
24912531DOMAINEGF-like 42; calcium-binding.might get lost (downstream of altered splice site)
24952495DISULFIDBy similarity.might get lost (downstream of altered splice site)
25022502DISULFIDBy similarity.might get lost (downstream of altered splice site)
25062506DISULFIDBy similarity.might get lost (downstream of altered splice site)
25152515DISULFIDBy similarity.might get lost (downstream of altered splice site)
25172517DISULFIDBy similarity.might get lost (downstream of altered splice site)
25302530DISULFIDBy similarity.might get lost (downstream of altered splice site)
25322570DOMAINEGF-like 43; calcium-binding.might get lost (downstream of altered splice site)
25362536DISULFIDBy similarity.might get lost (downstream of altered splice site)
25432543DISULFIDBy similarity.might get lost (downstream of altered splice site)
25472547DISULFIDBy similarity.might get lost (downstream of altered splice site)
25562556DISULFIDBy similarity.might get lost (downstream of altered splice site)
25582558DISULFIDBy similarity.might get lost (downstream of altered splice site)
25692569DISULFIDBy similarity.might get lost (downstream of altered splice site)
25712613DOMAINEGF-like 44; calcium-binding.might get lost (downstream of altered splice site)
25752575DISULFIDBy similarity.might get lost (downstream of altered splice site)
25822582DISULFIDBy similarity.might get lost (downstream of altered splice site)
25842584CONFLICTA -> G (in Ref. 1; AAA18950).might get lost (downstream of altered splice site)
25882588DISULFIDBy similarity.might get lost (downstream of altered splice site)
25972597DISULFIDBy similarity.might get lost (downstream of altered splice site)
25992599DISULFIDBy similarity.might get lost (downstream of altered splice site)
26122612DISULFIDBy similarity.might get lost (downstream of altered splice site)
26142653DOMAINEGF-like 45; calcium-binding.might get lost (downstream of altered splice site)
26182618DISULFIDBy similarity.might get lost (downstream of altered splice site)
26242624DISULFIDBy similarity.might get lost (downstream of altered splice site)
26282628DISULFIDBy similarity.might get lost (downstream of altered splice site)
26372637DISULFIDBy similarity.might get lost (downstream of altered splice site)
26392639DISULFIDBy similarity.might get lost (downstream of altered splice site)
26522652DISULFIDBy similarity.might get lost (downstream of altered splice site)
26542694DOMAINEGF-like 46; calcium-binding.might get lost (downstream of altered splice site)
26582658DISULFIDBy similarity.might get lost (downstream of altered splice site)
26642664DISULFIDBy similarity.might get lost (downstream of altered splice site)
26692669DISULFIDBy similarity.might get lost (downstream of altered splice site)
26782678DISULFIDBy similarity.might get lost (downstream of altered splice site)
26802680DISULFIDBy similarity.might get lost (downstream of altered splice site)
26932693DISULFIDBy similarity.might get lost (downstream of altered splice site)
26952734DOMAINEGF-like 47; calcium-binding.might get lost (downstream of altered splice site)
26992699DISULFIDBy similarity.might get lost (downstream of altered splice site)
27062706DISULFIDBy similarity.might get lost (downstream of altered splice site)
27102710DISULFIDBy similarity.might get lost (downstream of altered splice site)
27192719DISULFIDBy similarity.might get lost (downstream of altered splice site)
27212721DISULFIDBy similarity.might get lost (downstream of altered splice site)
27332733DISULFIDBy similarity.might get lost (downstream of altered splice site)
28082808CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8739 / 8739
position (AA) of stopcodon in wt / mu AA sequence 2913 / 2913
position of stopcodon in wt / mu cDNA 9178 / 9178
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 440 / 440
chromosome 5
strand -1
last intron/exon boundary 8804
theoretical NMD boundary in CDS 8314
length of CDS 8739
coding sequence (CDS) position 3758
cDNA position
(for ins/del: last normal base / first normal base)
4197
gDNA position
(for ins/del: last normal base / first normal base)
323643
chromosomal position
(for ins/del: last normal base / first normal base)
127671236
original gDNA sequence snippet TATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATT
altered gDNA sequence snippet TATGATAATGAACGGAGGCTATGACACCCAGTGCACAAATT
original cDNA sequence snippet TATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATT
altered cDNA sequence snippet TATGATAATGAACGGAGGCTATGACACCCAGTGCACAAATT
wildtype AA sequence MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA TAGSEGGFLA
PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG WKTLPGGNQC IVPICRNSCG
DGFCSRPNMC TCSSGQISST CGSKSIQQCS VRCMNGGTCA DDHCQCQKGY IGTYCGQPVC
ENGCQNGGRC IGPNRCACVY GFTGPQCERD YRTGPCFTQV NNQMCQGQLT GIVCTKTLCC
ATIGRAWGHP CEMCPAQPQP CRRGFIPNIR TGACQDVDEC QAIPGICQGG NCINTVGSFE
CRCPAGHKQS ETTQKCEDID ECSIIPGICE TGECSNTVGS YFCVCPRGYV TSTDGSRCID
QRTGMCFSGL VNGRCAQELP GRMTKMQCCC EPGRCWGIGT IPEACPVRGS EEYRRLCMDG
LPMGGIPGSA GSRPGGTGGN GFAPSGNGNG YGPGGTGFIP IPGGNGFSPG VGGAGVGAGG
QGPIITGLTI LNQTIDICKH HANLCLNGRC IPTVSSYRCE CNMGYKQDAN GDCIDVDECT
SNPCTNGDCV NTPGSYYCKC HAGFQRTPTK QACIDIDECI QNGVLCKNGR CVNTDGSFQC
ICNAGFELTT DGKNCVDHDE CTTTNMCLNG MCINEDGSFK CICKPGFVLA PNGRYCTDVD
ECQTPGICMN GHCINSEGSF RCDCPPGLAV GMDGRVCVDT HMRSTCYGGI KKGVCVRPFP
GAVTKSECCC ANPDYGFGEP CQPCPAKNSA EFHGLCSSGV GITVDGRDIN ECALDPDICA
NGICENLRGS YRCNCNSGYE PDASGRNCID IDECLVNRLL CDNGLCRNTP GSYSCTCPPG
YVFRTETETC EDINECESNP CVNGACRNNL GSFNCECSPG SKLSSTGLIC IDSLKGTCWL
NIQDSRCEVN INGATLKSEC CATLGAAWGS PCERCELDTA CPRGLARIKG VTCEDVNECE
VFPGVCPNGR CVNSKGSFHC ECPEGLTLDG TGRVCLDIRM EQCYLKWDED ECIHPVPGKF
RMDACCCAVG AAWGTECEEC PKPGTKEYET LCPRGAGFAN RGDVLTGRPF YKDINECKAF
PGMCTYGKCR NTIGSFKCRC NSGFALDMEE RNCTDIDECR ISPDLCGSGI CVNTPGSFEC
ECFEGYESGF MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD
INECSLSDNL CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGCDTQCTNS
EGSYECSCSE GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM
KTCIDVNECD LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM
HASCLNIPGS FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF
TGDGFTCSDV DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ DIDECSFQNI
CVFGTCNNLP GMFHCICDDG YELDRTGGNC TDIDECADPI NCVNGLCVNT PGRYECNCPP
DFQLNPTGVG CVDNRVGNCY LKFGPRGDGS LSCNTEIGVG VSRSSCCCSL GKAWGNPCET
CPPVNSTEYY TLCPGGEGFR PNPITIILED IDECQELPGL CQGGNCINTF GSFQCECPQG
YYLSEDTRIC EDIDECFAHP GVCGPGTCYN TLGNYTCICP PEYMQVNGGH NCMDMRKSFC
YRSYNGTTCE NELPFNVTKR MCCCTYNVGK AWNKPCEPCP TPGTADFKTI CGNIPGFTFD
IHTGKAVDID ECKEIPGICA NGVCINQIGS FRCECPTGFS YNDLLLVCED IDECSNGDNL
CQRNADCINS PGSYRCECAA GFKLSPNGAC VDRNECLEIP NVCSHGLCVD LQGSYQCICH
NGFKASQDQT MCMDVDECER HPCGNGTCKN TVGSYNCLCY PGFELTHNND CLDIDECSSF
FGQVCRNGRC FNEIGSFKCL CNEGYELTPD GKNCIDTNEC VALPGSCSPG TCQNLEGSFR
CICPPGYEVK SENCIDINEC DEDPNICLFG SCTNTPGGFQ CLCPPGFVLS DNGRRCFDTR
QSFCFTNFEN GKCSVPKAFN TTKAKCCCSK MPGEGWGDPC ELCPKDDEVA FQDLCPYGHG
TVPSLHDTRE DVNECLESPG ICSNGQCINT DGSFRCECPM GYNLDYTGVR CVDTDECSIG
NPCGNGTCTN VIGSFECNCN EGFEPGPMMN CEDINECAQN PLLCAFRCMN TFGSYECTCP
IGYALREDQK MCKDLDECAE GLHDCESRGM MCKNLIGTFM CICPPGMARR PDGEGCVDEN
ECRTKPGICE NGRCVNIIGS YRCECNEGFQ SSSSGTECLD NRQGLCFAEV LQTICQMASS
SRNLVTKSEC CCDGGRGWGH QCELCPLPGT AQYKKICPHG PGYTTDGRDI DECKVMPNLC
TNGQCINTMG SFRCFCKVGY TTDISGTSCI DLDECSQSPK PCNYICKNTE GSYQCSCPRG
YVLQEDGKTC KDLDECQTKQ HNCQFLCVNT LGGFTCKCPP GFTQHHTACI DNNECGSQPS
LCGAKGICQN TPGSFSCECQ RGFSLDATGL NCEDVDECDG NHRCQHGCQN ILGGYRCGCP
QGYIQHYQWN QCVDENECSN PNACGSASCY NTLGSYKCAC PSGFSFDQFS SACHDVNECS
SSKNPCNYGC SNTEGGYLCG CPPGYYRVGQ GHCVSGMGFN KGQYLSLDTE VDEENALSPE
ACYECKINGY SKKDSRQKRS IHEPDPTAVE QISLESVDMD SPVNMKFNLS HLGSKEHILE
LRPAIQPLNN HIRYVISQGN DDSVFRIHQR NGLSYLHTAK KKLMPGTYTL EITSIPLYKK
KELKKLEESN EDDYLLGELG EALRMRLQIQ LY*
mutated AA sequence MGRRRRLCLQ LYFLWLGCVV LWAQGTAGQP QPPPPKPPRP QPPPQQVRSA TAGSEGGFLA
PEYREEGAAV ASRVRRRGQQ DVLRGPNVCG SRFHSYCCPG WKTLPGGNQC IVPICRNSCG
DGFCSRPNMC TCSSGQISST CGSKSIQQCS VRCMNGGTCA DDHCQCQKGY IGTYCGQPVC
ENGCQNGGRC IGPNRCACVY GFTGPQCERD YRTGPCFTQV NNQMCQGQLT GIVCTKTLCC
ATIGRAWGHP CEMCPAQPQP CRRGFIPNIR TGACQDVDEC QAIPGICQGG NCINTVGSFE
CRCPAGHKQS ETTQKCEDID ECSIIPGICE TGECSNTVGS YFCVCPRGYV TSTDGSRCID
QRTGMCFSGL VNGRCAQELP GRMTKMQCCC EPGRCWGIGT IPEACPVRGS EEYRRLCMDG
LPMGGIPGSA GSRPGGTGGN GFAPSGNGNG YGPGGTGFIP IPGGNGFSPG VGGAGVGAGG
QGPIITGLTI LNQTIDICKH HANLCLNGRC IPTVSSYRCE CNMGYKQDAN GDCIDVDECT
SNPCTNGDCV NTPGSYYCKC HAGFQRTPTK QACIDIDECI QNGVLCKNGR CVNTDGSFQC
ICNAGFELTT DGKNCVDHDE CTTTNMCLNG MCINEDGSFK CICKPGFVLA PNGRYCTDVD
ECQTPGICMN GHCINSEGSF RCDCPPGLAV GMDGRVCVDT HMRSTCYGGI KKGVCVRPFP
GAVTKSECCC ANPDYGFGEP CQPCPAKNSA EFHGLCSSGV GITVDGRDIN ECALDPDICA
NGICENLRGS YRCNCNSGYE PDASGRNCID IDECLVNRLL CDNGLCRNTP GSYSCTCPPG
YVFRTETETC EDINECESNP CVNGACRNNL GSFNCECSPG SKLSSTGLIC IDSLKGTCWL
NIQDSRCEVN INGATLKSEC CATLGAAWGS PCERCELDTA CPRGLARIKG VTCEDVNECE
VFPGVCPNGR CVNSKGSFHC ECPEGLTLDG TGRVCLDIRM EQCYLKWDED ECIHPVPGKF
RMDACCCAVG AAWGTECEEC PKPGTKEYET LCPRGAGFAN RGDVLTGRPF YKDINECKAF
PGMCTYGKCR NTIGSFKCRC NSGFALDMEE RNCTDIDECR ISPDLCGSGI CVNTPGSFEC
ECFEGYESGF MMMKNCMDID ECERNPLLCR GGTCVNTEGS FQCDCPLGHE LSPSREDCVD
INECSLSDNL CRNGKCVNMI GTYQCSCNPG YQATPDRQGC TDIDECMIMN GGYDTQCTNS
EGSYECSCSE GYALMPDGRS CADIDECENN PDICDGGQCT NIPGEYRCLC YDGFMASMDM
KTCIDVNECD LNSNICMFGE CENTKGSFIC HCQLGYSVKK GTTGCTDVDE CEIGAHNCDM
HASCLNIPGS FKCSCREGWI GNGIKCIDLD ECSNGTHQCS INAQCVNTPG SYRCACSEGF
TGDGFTCSDV DECAENINLC ENGQCLNVPG AYRCECEMGF TPASDSRSCQ DIDECSFQNI
CVFGTCNNLP GMFHCICDDG YELDRTGGNC TDIDECADPI NCVNGLCVNT PGRYECNCPP
DFQLNPTGVG CVDNRVGNCY LKFGPRGDGS LSCNTEIGVG VSRSSCCCSL GKAWGNPCET
CPPVNSTEYY TLCPGGEGFR PNPITIILED IDECQELPGL CQGGNCINTF GSFQCECPQG
YYLSEDTRIC EDIDECFAHP GVCGPGTCYN TLGNYTCICP PEYMQVNGGH NCMDMRKSFC
YRSYNGTTCE NELPFNVTKR MCCCTYNVGK AWNKPCEPCP TPGTADFKTI CGNIPGFTFD
IHTGKAVDID ECKEIPGICA NGVCINQIGS FRCECPTGFS YNDLLLVCED IDECSNGDNL
CQRNADCINS PGSYRCECAA GFKLSPNGAC VDRNECLEIP NVCSHGLCVD LQGSYQCICH
NGFKASQDQT MCMDVDECER HPCGNGTCKN TVGSYNCLCY PGFELTHNND CLDIDECSSF
FGQVCRNGRC FNEIGSFKCL CNEGYELTPD GKNCIDTNEC VALPGSCSPG TCQNLEGSFR
CICPPGYEVK SENCIDINEC DEDPNICLFG SCTNTPGGFQ CLCPPGFVLS DNGRRCFDTR
QSFCFTNFEN GKCSVPKAFN TTKAKCCCSK MPGEGWGDPC ELCPKDDEVA FQDLCPYGHG
TVPSLHDTRE DVNECLESPG ICSNGQCINT DGSFRCECPM GYNLDYTGVR CVDTDECSIG
NPCGNGTCTN VIGSFECNCN EGFEPGPMMN CEDINECAQN PLLCAFRCMN TFGSYECTCP
IGYALREDQK MCKDLDECAE GLHDCESRGM MCKNLIGTFM CICPPGMARR PDGEGCVDEN
ECRTKPGICE NGRCVNIIGS YRCECNEGFQ SSSSGTECLD NRQGLCFAEV LQTICQMASS
SRNLVTKSEC CCDGGRGWGH QCELCPLPGT AQYKKICPHG PGYTTDGRDI DECKVMPNLC
TNGQCINTMG SFRCFCKVGY TTDISGTSCI DLDECSQSPK PCNYICKNTE GSYQCSCPRG
YVLQEDGKTC KDLDECQTKQ HNCQFLCVNT LGGFTCKCPP GFTQHHTACI DNNECGSQPS
LCGAKGICQN TPGSFSCECQ RGFSLDATGL NCEDVDECDG NHRCQHGCQN ILGGYRCGCP
QGYIQHYQWN QCVDENECSN PNACGSASCY NTLGSYKCAC PSGFSFDQFS SACHDVNECS
SSKNPCNYGC SNTEGGYLCG CPPGYYRVGQ GHCVSGMGFN KGQYLSLDTE VDEENALSPE
ACYECKINGY SKKDSRQKRS IHEPDPTAVE QISLESVDMD SPVNMKFNLS HLGSKEHILE
LRPAIQPLNN HIRYVISQGN DDSVFRIHQR NGLSYLHTAK KKLMPGTYTL EITSIPLYKK
KELKKLEESN EDDYLLGELG EALRMRLQIQ LY*
speed 1.39 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
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Problems