Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2462 | 7609;7610;7611 | chr2:178773672;178773671;178773670 | chr2:179638399;179638398;179638397 |
| N2AB | 2462 | 7609;7610;7611 | chr2:178773672;178773671;178773670 | chr2:179638399;179638398;179638397 |
| N2A | 2462 | 7609;7610;7611 | chr2:178773672;178773671;178773670 | chr2:179638399;179638398;179638397 |
| N2B | 2416 | 7471;7472;7473 | chr2:178773672;178773671;178773670 | chr2:179638399;179638398;179638397 |
| Novex-1 | 2416 | 7471;7472;7473 | chr2:178773672;178773671;178773670 | chr2:179638399;179638398;179638397 |
| Novex-2 | 2416 | 7471;7472;7473 | chr2:178773672;178773671;178773670 | chr2:179638399;179638398;179638397 |
| Novex-3 | 2462 | 7609;7610;7611 | chr2:178773672;178773671;178773670 | chr2:179638399;179638398;179638397 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 1.0 | D | 0.853 | 0.495 | 0.33835085245 | gnomAD-4.0.0 | 1.36822E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99321E-07 | 1.15937E-05 | 0 |
| A/T | None | None | 0.996 | N | 0.624 | 0.307 | 0.212008924253 | gnomAD-4.0.0 | 6.84112E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99321E-07 | 0 | 0 |
| A/V | None | None | 0.884 | N | 0.358 | 0.288 | 0.273503213844 | gnomAD-4.0.0 | 1.59074E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02206E-05 |
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 | 0.8043 | likely_pathogenic | 0.7949 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| A/D | 0.9824 | likely_pathogenic | 0.9815 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.652216876 | None | None | N |
| A/E | 0.9698 | likely_pathogenic | 0.9706 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/F | 0.9227 | likely_pathogenic | 0.9227 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/G | 0.3081 | likely_benign | 0.2885 | benign | -1.38 | Destabilizing | 0.999 | D | 0.623 | neutral | D | 0.589598172 | None | None | N |
| A/H | 0.9877 | likely_pathogenic | 0.9884 | pathogenic | -1.606 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/I | 0.6944 | likely_pathogenic | 0.6853 | pathogenic | -0.069 | Destabilizing | 0.994 | D | 0.731 | prob.delet. | None | None | None | None | N |
| A/K | 0.9933 | likely_pathogenic | 0.9939 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/L | 0.647 | likely_pathogenic | 0.6441 | pathogenic | -0.069 | Destabilizing | 0.994 | D | 0.667 | neutral | None | None | None | None | N |
| A/M | 0.6849 | likely_pathogenic | 0.6862 | pathogenic | -0.175 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/N | 0.9587 | likely_pathogenic | 0.9559 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/P | 0.9863 | likely_pathogenic | 0.9864 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.652085493 | None | None | N |
| A/Q | 0.9682 | likely_pathogenic | 0.9699 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/R | 0.9856 | likely_pathogenic | 0.9867 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/S | 0.324 | likely_benign | 0.3081 | benign | -1.7 | Destabilizing | 0.998 | D | 0.63 | neutral | D | 0.650856171 | None | None | N |
| A/T | 0.3285 | likely_benign | 0.3179 | benign | -1.503 | Destabilizing | 0.996 | D | 0.624 | neutral | N | 0.518924669 | None | None | N |
| A/V | 0.3438 | ambiguous | 0.3402 | ambiguous | -0.335 | Destabilizing | 0.884 | D | 0.358 | neutral | N | 0.441755983 | None | None | N |
| A/W | 0.9945 | likely_pathogenic | 0.9945 | pathogenic | -1.348 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/Y | 0.9712 | likely_pathogenic | 0.9719 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.875 | deleterious | 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.