Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28193 | 84802;84803;84804 | chr2:178561555;178561554;178561553 | chr2:179426282;179426281;179426280 |
| N2AB | 26552 | 79879;79880;79881 | chr2:178561555;178561554;178561553 | chr2:179426282;179426281;179426280 |
| N2A | 25625 | 77098;77099;77100 | chr2:178561555;178561554;178561553 | chr2:179426282;179426281;179426280 |
| N2B | 19128 | 57607;57608;57609 | chr2:178561555;178561554;178561553 | chr2:179426282;179426281;179426280 |
| Novex-1 | 19253 | 57982;57983;57984 | chr2:178561555;178561554;178561553 | chr2:179426282;179426281;179426280 |
| Novex-2 | 19320 | 58183;58184;58185 | chr2:178561555;178561554;178561553 | chr2:179426282;179426281;179426280 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs935341485  |
-0.868 | None | N | 0.483 | 0.275 | 0.242244723065 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs935341485 |
-0.868 | None | N | 0.483 | 0.275 | 0.242244723065 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs935341485 |
-0.868 | None | N | 0.483 | 0.275 | 0.242244723065 | gnomAD-4.0.0 | 4.95887E-06 | None | None | None | None | N | None | 0 | 5.00434E-05 | None | 0 | 0 | None | 0 | 0 | 3.391E-06 | 0 | 1.60169E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.4712 | ambiguous | 0.4532 | ambiguous | -2.402 | Highly Destabilizing | 0.025 | N | 0.474 | neutral | None | None | None | None | N |
| Y/C | 0.0996 | likely_benign | 0.0942 | benign | -1.349 | Destabilizing | None | N | 0.483 | neutral | N | 0.449203223 | None | None | N |
| Y/D | 0.6803 | likely_pathogenic | 0.6677 | pathogenic | -2.568 | Highly Destabilizing | 0.175 | N | 0.623 | neutral | N | 0.485787553 | None | None | N |
| Y/E | 0.7241 | likely_pathogenic | 0.7041 | pathogenic | -2.35 | Highly Destabilizing | 0.055 | N | 0.522 | neutral | None | None | None | None | N |
| Y/F | 0.0882 | likely_benign | 0.09 | benign | -0.709 | Destabilizing | 0.175 | N | 0.583 | neutral | N | 0.475659105 | None | None | N |
| Y/G | 0.4576 | ambiguous | 0.4173 | ambiguous | -2.823 | Highly Destabilizing | 0.104 | N | 0.549 | neutral | None | None | None | None | N |
| Y/H | 0.1367 | likely_benign | 0.1308 | benign | -1.508 | Destabilizing | 0.001 | N | 0.226 | neutral | N | 0.469965284 | None | None | N |
| Y/I | 0.4281 | ambiguous | 0.4299 | ambiguous | -1.026 | Destabilizing | 0.364 | N | 0.595 | neutral | None | None | None | None | N |
| Y/K | 0.3689 | ambiguous | 0.3326 | benign | -1.869 | Destabilizing | None | N | 0.449 | neutral | None | None | None | None | N |
| Y/L | 0.3908 | ambiguous | 0.3865 | ambiguous | -1.026 | Destabilizing | 0.104 | N | 0.402 | neutral | None | None | None | None | N |
| Y/M | 0.4608 | ambiguous | 0.4579 | ambiguous | -0.803 | Destabilizing | 0.859 | D | 0.588 | neutral | None | None | None | None | N |
| Y/N | 0.28 | likely_benign | 0.2673 | benign | -2.709 | Highly Destabilizing | 0.042 | N | 0.579 | neutral | N | 0.485787553 | None | None | N |
| Y/P | 0.988 | likely_pathogenic | 0.9875 | pathogenic | -1.496 | Destabilizing | 0.364 | N | 0.637 | neutral | None | None | None | None | N |
| Y/Q | 0.3195 | likely_benign | 0.2822 | benign | -2.372 | Highly Destabilizing | 0.22 | N | 0.578 | neutral | None | None | None | None | N |
| Y/R | 0.2477 | likely_benign | 0.214 | benign | -1.835 | Destabilizing | None | N | 0.455 | neutral | None | None | None | None | N |
| Y/S | 0.2551 | likely_benign | 0.2372 | benign | -3.087 | Highly Destabilizing | 0.081 | N | 0.523 | neutral | N | 0.485510739 | None | None | N |
| Y/T | 0.4409 | ambiguous | 0.4353 | ambiguous | -2.743 | Highly Destabilizing | 0.104 | N | 0.549 | neutral | None | None | None | None | N |
| Y/V | 0.3144 | likely_benign | 0.3157 | benign | -1.496 | Destabilizing | 0.104 | N | 0.499 | neutral | None | None | None | None | N |
| Y/W | 0.3973 | ambiguous | 0.3537 | ambiguous | -0.08 | Destabilizing | 0.859 | D | 0.587 | neutral | 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.