Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13738 | 41437;41438;41439 | chr2:178636515;178636514;178636513 | chr2:179501242;179501241;179501240 |
| N2AB | 12097 | 36514;36515;36516 | chr2:178636515;178636514;178636513 | chr2:179501242;179501241;179501240 |
| N2A | 11170 | 33733;33734;33735 | chr2:178636515;178636514;178636513 | chr2:179501242;179501241;179501240 |
| N2B | 4673 | 14242;14243;14244 | chr2:178636515;178636514;178636513 | chr2:179501242;179501241;179501240 |
| Novex-1 | 4798 | 14617;14618;14619 | chr2:178636515;178636514;178636513 | chr2:179501242;179501241;179501240 |
| Novex-2 | 4865 | 14818;14819;14820 | chr2:178636515;178636514;178636513 | chr2:179501242;179501241;179501240 |
| 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/S | None | None | 0.991 | N | 0.553 | 0.395 | 0.259761712551 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85963E-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 | 0.8564 | likely_pathogenic | 0.9191 | pathogenic | -0.445 | Destabilizing | 0.998 | D | 0.479 | neutral | N | 0.520815247 | None | None | N |
| G/C | 0.9737 | likely_pathogenic | 0.9826 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.677453075 | None | None | N |
| G/D | 0.9649 | likely_pathogenic | 0.9778 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.451579263 | None | None | N |
| G/E | 0.9717 | likely_pathogenic | 0.9817 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/F | 0.9937 | likely_pathogenic | 0.9964 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/H | 0.989 | likely_pathogenic | 0.9929 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| G/I | 0.9902 | likely_pathogenic | 0.9945 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/K | 0.9891 | likely_pathogenic | 0.9904 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/L | 0.9851 | likely_pathogenic | 0.9924 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/M | 0.9904 | likely_pathogenic | 0.9949 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/N | 0.9327 | likely_pathogenic | 0.9605 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/P | 0.9979 | likely_pathogenic | 0.9989 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/Q | 0.9682 | likely_pathogenic | 0.9795 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/R | 0.9748 | likely_pathogenic | 0.9771 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.530584517 | None | None | N |
| G/S | 0.6765 | likely_pathogenic | 0.7882 | pathogenic | -0.645 | Destabilizing | 0.991 | D | 0.553 | neutral | N | 0.508707339 | None | None | N |
| G/T | 0.9471 | likely_pathogenic | 0.9712 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/V | 0.9813 | likely_pathogenic | 0.9892 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.636781077 | None | None | N |
| G/W | 0.9909 | likely_pathogenic | 0.9938 | pathogenic | -1.367 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9913 | likely_pathogenic | 0.9943 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.728 | 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.