Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1149 | 3670;3671;3672 | chr2:178781199;178781198;178781197 | chr2:179645926;179645925;179645924 |
| N2AB | 1149 | 3670;3671;3672 | chr2:178781199;178781198;178781197 | chr2:179645926;179645925;179645924 |
| N2A | 1149 | 3670;3671;3672 | chr2:178781199;178781198;178781197 | chr2:179645926;179645925;179645924 |
| N2B | 1103 | 3532;3533;3534 | chr2:178781199;178781198;178781197 | chr2:179645926;179645925;179645924 |
| Novex-1 | 1103 | 3532;3533;3534 | chr2:178781199;178781198;178781197 | chr2:179645926;179645925;179645924 |
| Novex-2 | 1103 | 3532;3533;3534 | chr2:178781199;178781198;178781197 | chr2:179645926;179645925;179645924 |
| Novex-3 | 1149 | 3670;3671;3672 | chr2:178781199;178781198;178781197 | chr2:179645926;179645925;179645924 |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs781299976  |
-0.149 | 1.0 | N | 0.645 | 0.508 | 0.163833314356 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.81E-06 | 0 |
| D/G | rs781299976 |
-0.149 | 1.0 | N | 0.645 | 0.508 | 0.163833314356 | gnomAD-4.0.0 | 4.78887E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69801E-06 | 3.47802E-05 | 1.65601E-05 |
| D/N | rs368967197 |
0.484 | 1.0 | N | 0.605 | 0.34 | None | gnomAD-2.1.1 | 1.42E-05 | None | None | None | None | I | None | 1.60192E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs368967197 |
0.484 | 1.0 | N | 0.605 | 0.34 | None | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | I | None | 1.92966E-04 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs368967197 |
0.484 | 1.0 | N | 0.605 | 0.34 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/N | rs368967197 |
0.484 | 1.0 | N | 0.605 | 0.34 | None | gnomAD-4.0.0 | 1.53663E-05 | None | None | None | None | I | None | 1.85598E-04 | 1.694E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs368967197 |
0.018 | 1.0 | N | 0.707 | 0.476 | 0.514866526686 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/Y | rs368967197 |
0.018 | 1.0 | N | 0.707 | 0.476 | 0.514866526686 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs368967197 |
0.018 | 1.0 | N | 0.707 | 0.476 | 0.514866526686 | gnomAD-4.0.0 | 3.84214E-06 | None | None | None | None | I | None | 5.07219E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8602 | likely_pathogenic | 0.8097 | pathogenic | -0.077 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.444405319 | None | None | I |
| D/C | 0.9946 | likely_pathogenic | 0.9918 | pathogenic | 0.046 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| D/E | 0.7225 | likely_pathogenic | 0.6575 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.424 | neutral | N | 0.405737507 | None | None | I |
| D/F | 0.9886 | likely_pathogenic | 0.983 | pathogenic | -0.182 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| D/G | 0.8347 | likely_pathogenic | 0.7758 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.645 | neutral | N | 0.448109879 | None | None | I |
| D/H | 0.964 | likely_pathogenic | 0.946 | pathogenic | 0.268 | Stabilizing | 1.0 | D | 0.65 | neutral | N | 0.441669638 | None | None | I |
| D/I | 0.9826 | likely_pathogenic | 0.9731 | pathogenic | 0.189 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| D/K | 0.9698 | likely_pathogenic | 0.9586 | pathogenic | 0.457 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| D/L | 0.9701 | likely_pathogenic | 0.9555 | pathogenic | 0.189 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| D/M | 0.9921 | likely_pathogenic | 0.9871 | pathogenic | 0.162 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| D/N | 0.643 | likely_pathogenic | 0.5778 | pathogenic | 0.263 | Stabilizing | 1.0 | D | 0.605 | neutral | N | 0.449991274 | None | None | I |
| D/P | 0.9933 | likely_pathogenic | 0.9909 | pathogenic | 0.12 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| D/Q | 0.9606 | likely_pathogenic | 0.9432 | pathogenic | 0.263 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| D/R | 0.9676 | likely_pathogenic | 0.954 | pathogenic | 0.627 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| D/S | 0.711 | likely_pathogenic | 0.6347 | pathogenic | 0.16 | Stabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | I |
| D/T | 0.9349 | likely_pathogenic | 0.901 | pathogenic | 0.26 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| D/V | 0.9413 | likely_pathogenic | 0.9134 | pathogenic | 0.12 | Stabilizing | 1.0 | D | 0.745 | deleterious | N | 0.470466006 | None | None | I |
| D/W | 0.9972 | likely_pathogenic | 0.9958 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| D/Y | 0.9344 | likely_pathogenic | 0.9076 | pathogenic | 0.044 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.44276571 | None | None | I |
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.