Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC355110876;10877;10878 chr2:178757569;178757568;178757567chr2:179622296;179622295;179622294
N2ABNoneNone chr2:Nonechr2:None
N2ANoneNone chr2:Nonechr2:None
N2BNoneNone chr2:Nonechr2:None
Novex-1350510738;10739;10740 chr2:178757569;178757568;178757567chr2:179622296;179622295;179622294
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: A
  • RefSeq wild type transcript codon: GCA
  • RefSeq wild type template codon: CGT
  • Domain: Ig-25
  • Domain position: 87
  • Structural Position: 171
  • Q(SASA): 0.4966
  • Predicted PPI site: N

Reported SAVs

SNV RS
DUET
PolyPhen-2
Condel
Rhapsody
REVEL
MVP
Source
MAF
Disease
Zygosity
Site annotation
mCSM PPI
Predicted PPI site
Comments
AFR
AMR
AMS
ASJ
EAS
EUR
FIN
MDE
NFE
SAS
OTH
A/V rs2154335907 None None None None 0.168 None gnomAD-4.0.0 1.64654E-06 None None None None N None 0 0 None 0 0 None 0 0 2.96746E-06 0 0

Saturation Mutagenesis

SAV
AlphaMissense (IC)
AlphaMissense Class (IC)
AlphaMissense (N2AB)
AlphaMissense Class (N2AB)
mCSM
mCSM class
PolyPhen-2
PolyPhen-2 Class
Rhapsody
Rhapsody Class
Condel
Condel Score
Site annotation
mCSM PPI
Predicted PPI site
A/C 0.5601 ambiguous None None -0.785 Destabilizing None None None None None None None None N
A/D 0.3142 likely_benign None None -0.731 Destabilizing None None None None None None None None N
A/E 0.2263 likely_benign None None -0.873 Destabilizing None None None None None None None None N
A/F 0.3091 likely_benign None None -1.149 Destabilizing None None None None None None None None N
A/G 0.2111 likely_benign None None -0.647 Destabilizing None None None None None None None None N
A/H 0.4289 ambiguous None None -0.733 Destabilizing None None None None None None None None N
A/I 0.2285 likely_benign None None -0.487 Destabilizing None None None None None None None None N
A/K 0.4018 ambiguous None None -0.758 Destabilizing None None None None None None None None N
A/L 0.187 likely_benign None None -0.487 Destabilizing None None None None None None None None N
A/M 0.2125 likely_benign None None -0.343 Destabilizing None None None None None None None None N
A/N 0.267 likely_benign None None -0.405 Destabilizing None None None None None None None None N
A/P 0.515 ambiguous None None -0.473 Destabilizing None None None None None None None None N
A/Q 0.2935 likely_benign None None -0.727 Destabilizing None None None None None None None None N
A/R 0.3164 likely_benign None None -0.293 Destabilizing None None None None None None None None N
A/S 0.0941 likely_benign None None -0.64 Destabilizing None None None None None None None None N
A/T 0.0786 likely_benign None None -0.707 Destabilizing None None None None None None None None N
A/V 0.1311 likely_benign None None -0.473 Destabilizing None None None None None None None None N
A/W 0.7642 likely_pathogenic None None -1.289 Destabilizing None None None None None None None None N
A/Y 0.4847 ambiguous None None -0.928 Destabilizing None None None None None None None None N

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.