Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC350110726;10727;10728 chr2:178757719;178757718;178757717chr2:179622446;179622445;179622444
N2ABNoneNone chr2:Nonechr2:None
N2ANoneNone chr2:Nonechr2:None
N2BNoneNone chr2:Nonechr2:None
Novex-1345510588;10589;10590 chr2:178757719;178757718;178757717chr2:179622446;179622445;179622444
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: N
  • RefSeq wild type transcript codon: AAC
  • RefSeq wild type template codon: TTG
  • Domain: Ig-25
  • Domain position: 37
  • Structural Position: 51
  • Q(SASA): 0.4278
  • 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
N/K None None None None None 0.211 None gnomAD-4.0.0 6.84197E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15937E-05 0
N/S None None None None None 0.253 None gnomAD-4.0.0 1.20037E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31256E-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
N/A 0.6756 likely_pathogenic None None -0.739 Destabilizing None None None None None None None None N
N/C 0.6936 likely_pathogenic None None 0.214 Stabilizing None None None None None None None None N
N/D 0.1465 likely_benign None None -0.337 Destabilizing None None None None None None None None N
N/E 0.595 likely_pathogenic None None -0.282 Destabilizing None None None None None None None None N
N/F 0.9329 likely_pathogenic None None -0.618 Destabilizing None None None None None None None None N
N/G 0.4788 ambiguous None None -1.046 Destabilizing None None None None None None None None N
N/H 0.1992 likely_benign None None -0.951 Destabilizing None None None None None None None None N
N/I 0.8854 likely_pathogenic None None 0.023 Stabilizing None None None None None None None None N
N/K 0.5391 ambiguous None None -0.309 Destabilizing None None None None None None None None N
N/L 0.739 likely_pathogenic None None 0.023 Stabilizing None None None None None None None None N
N/M 0.8631 likely_pathogenic None None 0.493 Stabilizing None None None None None None None None N
N/P 0.9823 likely_pathogenic None None -0.201 Destabilizing None None None None None None None None N
N/Q 0.4734 ambiguous None None -0.742 Destabilizing None None None None None None None None N
N/R 0.5591 ambiguous None None -0.347 Destabilizing None None None None None None None None N
N/S 0.1609 likely_benign None None -0.694 Destabilizing None None None None None None None None N
N/T 0.6377 likely_pathogenic None None -0.463 Destabilizing None None None None None None None None N
N/V 0.8882 likely_pathogenic None None -0.201 Destabilizing None None None None None None None None N
N/W 0.9735 likely_pathogenic None None -0.454 Destabilizing None None None None None None None None N
N/Y 0.555 ambiguous None None -0.264 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.