Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC17205383;5384;5385 chr2:178776706;178776705;178776704chr2:179641433;179641432;179641431
N2AB17205383;5384;5385 chr2:178776706;178776705;178776704chr2:179641433;179641432;179641431
N2A17205383;5384;5385 chr2:178776706;178776705;178776704chr2:179641433;179641432;179641431
N2B16745245;5246;5247 chr2:178776706;178776705;178776704chr2:179641433;179641432;179641431
Novex-116745245;5246;5247 chr2:178776706;178776705;178776704chr2:179641433;179641432;179641431
Novex-216745245;5246;5247 chr2:178776706;178776705;178776704chr2:179641433;179641432;179641431
Novex-317205383;5384;5385 chr2:178776706;178776705;178776704chr2:179641433;179641432;179641431

Information

  • RefSeq wild type amino acid: A
  • RefSeq wild type transcript codon: GCC
  • RefSeq wild type template codon: CGG
  • Domain: Ig-8
  • Domain position: 18
  • Structural Position: 28
  • Q(SASA): 0.1488
  • 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/T rs1183072143 -1.113 0.885 D 0.611 0.546 0.395595088485 gnomAD-2.1.1 7.09E-06 None None None None N None 8.01E-05 0 None 0 0 None 0 None 0 0 0
A/T rs1183072143 -1.113 0.885 D 0.611 0.546 0.395595088485 gnomAD-3.1.2 1.31E-05 None None None None N None 4.82E-05 0 0 0 0 None 0 0 0 0 0
A/T rs1183072143 -1.113 0.885 D 0.611 0.546 0.395595088485 gnomAD-4.0.0 3.09791E-06 None None None None N None 6.67236E-05 0 None 0 0 None 0 0 0 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 0.6299 likely_pathogenic 0.5581 ambiguous -0.601 Destabilizing 0.999 D 0.668 neutral None None None None N
A/D 0.9825 likely_pathogenic 0.9831 pathogenic -1.417 Destabilizing 0.982 D 0.745 deleterious D 0.776593076 None None N
A/E 0.9633 likely_pathogenic 0.9668 pathogenic -1.212 Destabilizing 0.986 D 0.764 deleterious None None None None N
A/F 0.911 likely_pathogenic 0.9154 pathogenic -0.468 Destabilizing 0.993 D 0.725 prob.delet. None None None None N
A/G 0.3917 ambiguous 0.3451 ambiguous -1.178 Destabilizing 0.885 D 0.569 neutral D 0.689858494 None None N
A/H 0.9757 likely_pathogenic 0.9751 pathogenic -1.622 Destabilizing 0.999 D 0.721 prob.delet. None None None None N
A/I 0.5837 likely_pathogenic 0.5794 pathogenic 0.627 Stabilizing 0.91 D 0.709 prob.delet. None None None None N
A/K 0.9902 likely_pathogenic 0.9907 pathogenic -0.72 Destabilizing 0.986 D 0.76 deleterious None None None None N
A/L 0.6405 likely_pathogenic 0.6523 pathogenic 0.627 Stabilizing 0.91 D 0.622 neutral None None None None N
A/M 0.7276 likely_pathogenic 0.7141 pathogenic 0.402 Stabilizing 0.998 D 0.731 prob.delet. None None None None N
A/N 0.9264 likely_pathogenic 0.9217 pathogenic -0.962 Destabilizing 0.986 D 0.741 deleterious None None None None N
A/P 0.963 likely_pathogenic 0.9684 pathogenic 0.236 Stabilizing 0.991 D 0.767 deleterious D 0.776526588 None None N
A/Q 0.9451 likely_pathogenic 0.9462 pathogenic -0.728 Destabilizing 0.993 D 0.731 prob.delet. None None None None N
A/R 0.9771 likely_pathogenic 0.9798 pathogenic -0.973 Destabilizing 0.986 D 0.741 deleterious None None None None N
A/S 0.1498 likely_benign 0.1389 benign -1.446 Destabilizing 0.322 N 0.34 neutral D 0.717326577 None None N
A/T 0.219 likely_benign 0.2 benign -1.085 Destabilizing 0.885 D 0.611 neutral D 0.678141511 None None N
A/V 0.2477 likely_benign 0.2353 benign 0.236 Stabilizing 0.17 N 0.285 neutral N 0.486274446 None None N
A/W 0.9942 likely_pathogenic 0.9943 pathogenic -1.194 Destabilizing 0.999 D 0.742 deleterious None None None None N
A/Y 0.9714 likely_pathogenic 0.9733 pathogenic -0.544 Destabilizing 0.998 D 0.737 prob.delet. 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.