Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16514 | 49765;49766;49767 | chr2:178613269;178613268;178613267 | chr2:179477996;179477995;179477994 |
| N2AB | 14873 | 44842;44843;44844 | chr2:178613269;178613268;178613267 | chr2:179477996;179477995;179477994 |
| N2A | 13946 | 42061;42062;42063 | chr2:178613269;178613268;178613267 | chr2:179477996;179477995;179477994 |
| N2B | 7449 | 22570;22571;22572 | chr2:178613269;178613268;178613267 | chr2:179477996;179477995;179477994 |
| Novex-1 | 7574 | 22945;22946;22947 | chr2:178613269;178613268;178613267 | chr2:179477996;179477995;179477994 |
| Novex-2 | 7641 | 23146;23147;23148 | chr2:178613269;178613268;178613267 | chr2:179477996;179477995;179477994 |
| 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/D | rs776604541  |
-0.422 | 1.0 | N | 0.753 | 0.534 | 0.328486982098 | gnomAD-4.0.0 | 1.60373E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.46469E-05 | 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 | 0.6164 | likely_pathogenic | 0.4216 | ambiguous | -0.227 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.647938253 | None | None | N |
| G/C | 0.8403 | likely_pathogenic | 0.584 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.688284963 | None | None | N |
| G/D | 0.823 | likely_pathogenic | 0.6885 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.474795035 | None | None | N |
| G/E | 0.9088 | likely_pathogenic | 0.8205 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/F | 0.9551 | likely_pathogenic | 0.9013 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| G/H | 0.9416 | likely_pathogenic | 0.8302 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| G/I | 0.9257 | likely_pathogenic | 0.8357 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| G/K | 0.9742 | likely_pathogenic | 0.9566 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/L | 0.9316 | likely_pathogenic | 0.8362 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/M | 0.9292 | likely_pathogenic | 0.8072 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/N | 0.668 | likely_pathogenic | 0.4501 | ambiguous | -0.46 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/P | 0.9907 | likely_pathogenic | 0.9799 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/Q | 0.931 | likely_pathogenic | 0.8323 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/R | 0.9643 | likely_pathogenic | 0.9444 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.540484794 | None | None | N |
| G/S | 0.4452 | ambiguous | 0.2811 | benign | -0.63 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.537734997 | None | None | N |
| G/T | 0.7551 | likely_pathogenic | 0.5269 | ambiguous | -0.694 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/V | 0.8721 | likely_pathogenic | 0.7274 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.724979246 | None | None | N |
| G/W | 0.9495 | likely_pathogenic | 0.8791 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| G/Y | 0.9118 | likely_pathogenic | 0.8066 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.719 | 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.