Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29113 | 87562;87563;87564 | chr2:178558017;178558016;178558015 | chr2:179422744;179422743;179422742 |
| N2AB | 27472 | 82639;82640;82641 | chr2:178558017;178558016;178558015 | chr2:179422744;179422743;179422742 |
| N2A | 26545 | 79858;79859;79860 | chr2:178558017;178558016;178558015 | chr2:179422744;179422743;179422742 |
| N2B | 20048 | 60367;60368;60369 | chr2:178558017;178558016;178558015 | chr2:179422744;179422743;179422742 |
| Novex-1 | 20173 | 60742;60743;60744 | chr2:178558017;178558016;178558015 | chr2:179422744;179422743;179422742 |
| Novex-2 | 20240 | 60943;60944;60945 | chr2:178558017;178558016;178558015 | chr2:179422744;179422743;179422742 |
| Novex-3 | None | None | chr2:None | chr2:None |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1255742276  |
None | 1.0 | D | 0.831 | 0.747 | 0.78958931169 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs1255742276 |
None | 1.0 | D | 0.831 | 0.747 | 0.78958931169 | gnomAD-4.0.0 | 4.33774E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93299E-06 | 0 | 0 |
| G/R | rs373526664 |
None | 1.0 | D | 0.825 | 0.758 | 0.839919192221 | gnomAD-4.0.0 | 7.52614E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.8936E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3757 | ambiguous | 0.4021 | ambiguous | -0.581 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.585845635 | None | None | I |
| G/C | 0.6162 | likely_pathogenic | 0.6616 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/D | 0.7716 | likely_pathogenic | 0.7666 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/E | 0.8338 | likely_pathogenic | 0.8343 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.588670895 | None | None | I |
| G/F | 0.9497 | likely_pathogenic | 0.9467 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/H | 0.9224 | likely_pathogenic | 0.9157 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| G/I | 0.9428 | likely_pathogenic | 0.9445 | pathogenic | -0.222 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/K | 0.9303 | likely_pathogenic | 0.9268 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/L | 0.9121 | likely_pathogenic | 0.9148 | pathogenic | -0.222 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/M | 0.9348 | likely_pathogenic | 0.9397 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/N | 0.8381 | likely_pathogenic | 0.8329 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/P | 0.9952 | likely_pathogenic | 0.9945 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/Q | 0.8371 | likely_pathogenic | 0.8354 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/R | 0.8411 | likely_pathogenic | 0.8359 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.58846909 | None | None | I |
| G/S | 0.3021 | likely_benign | 0.3285 | benign | -1.092 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/T | 0.7482 | likely_pathogenic | 0.7618 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/V | 0.8611 | likely_pathogenic | 0.8676 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.588670895 | None | None | I |
| G/W | 0.9309 | likely_pathogenic | 0.9268 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.588872699 | None | None | I |
| G/Y | 0.9356 | likely_pathogenic | 0.9317 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | 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.