Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26751 | 80476;80477;80478 | chr2:178565881;178565880;178565879 | chr2:179430608;179430607;179430606 |
| N2AB | 25110 | 75553;75554;75555 | chr2:178565881;178565880;178565879 | chr2:179430608;179430607;179430606 |
| N2A | 24183 | 72772;72773;72774 | chr2:178565881;178565880;178565879 | chr2:179430608;179430607;179430606 |
| N2B | 17686 | 53281;53282;53283 | chr2:178565881;178565880;178565879 | chr2:179430608;179430607;179430606 |
| Novex-1 | 17811 | 53656;53657;53658 | chr2:178565881;178565880;178565879 | chr2:179430608;179430607;179430606 |
| Novex-2 | 17878 | 53857;53858;53859 | chr2:178565881;178565880;178565879 | chr2:179430608;179430607;179430606 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs912122514  |
-1.253 | 0.521 | N | 0.54 | 0.231 | 0.570543898189 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/D | rs912122514 |
-1.253 | 0.521 | N | 0.54 | 0.231 | 0.570543898189 | gnomAD-4.0.0 | 2.05281E-06 | None | None | None | None | N | None | 0 | 2.23634E-05 | None | 0 | 0 | None | 0 | 0 | 8.9956E-07 | 0 | 1.65684E-05 |
| A/T | rs1559345993 |
None | 0.012 | N | 0.103 | 0.086 | 0.282179105231 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| A/V | rs912122514 |
-0.294 | 0.684 | N | 0.458 | 0.165 | 0.459463830659 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| A/V | rs912122514 |
-0.294 | 0.684 | N | 0.458 | 0.165 | 0.459463830659 | gnomAD-4.0.0 | 6.84271E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3324 | likely_benign | 0.364 | ambiguous | -0.78 | Destabilizing | 0.996 | D | 0.526 | neutral | None | None | None | None | N |
| A/D | 0.5359 | ambiguous | 0.4973 | ambiguous | -0.994 | Destabilizing | 0.521 | D | 0.54 | neutral | N | 0.505283005 | None | None | N |
| A/E | 0.5608 | ambiguous | 0.4842 | ambiguous | -0.997 | Destabilizing | 0.59 | D | 0.493 | neutral | None | None | None | None | N |
| A/F | 0.4484 | ambiguous | 0.433 | ambiguous | -0.929 | Destabilizing | 0.953 | D | 0.592 | neutral | None | None | None | None | N |
| A/G | 0.1198 | likely_benign | 0.1143 | benign | -1.182 | Destabilizing | 0.003 | N | 0.085 | neutral | N | 0.428958449 | None | None | N |
| A/H | 0.6182 | likely_pathogenic | 0.6254 | pathogenic | -1.341 | Destabilizing | 0.953 | D | 0.557 | neutral | None | None | None | None | N |
| A/I | 0.3388 | likely_benign | 0.3218 | benign | -0.251 | Destabilizing | 0.91 | D | 0.6 | neutral | None | None | None | None | N |
| A/K | 0.7638 | likely_pathogenic | 0.7353 | pathogenic | -1.078 | Destabilizing | 0.59 | D | 0.523 | neutral | None | None | None | None | N |
| A/L | 0.2538 | likely_benign | 0.2628 | benign | -0.251 | Destabilizing | 0.742 | D | 0.503 | neutral | None | None | None | None | N |
| A/M | 0.2349 | likely_benign | 0.2431 | benign | -0.193 | Destabilizing | 0.984 | D | 0.551 | neutral | None | None | None | None | N |
| A/N | 0.2615 | likely_benign | 0.271 | benign | -0.827 | Destabilizing | 0.009 | N | 0.384 | neutral | None | None | None | None | N |
| A/P | 0.918 | likely_pathogenic | 0.916 | pathogenic | -0.422 | Destabilizing | 0.939 | D | 0.604 | neutral | N | 0.477751567 | None | None | N |
| A/Q | 0.475 | ambiguous | 0.465 | ambiguous | -0.936 | Destabilizing | 0.206 | N | 0.361 | neutral | None | None | None | None | N |
| A/R | 0.7113 | likely_pathogenic | 0.6814 | pathogenic | -0.801 | Destabilizing | 0.742 | D | 0.584 | neutral | None | None | None | None | N |
| A/S | 0.0866 | likely_benign | 0.0931 | benign | -1.235 | Destabilizing | 0.028 | N | 0.146 | neutral | N | 0.444290474 | None | None | N |
| A/T | 0.0957 | likely_benign | 0.0957 | benign | -1.136 | Destabilizing | 0.012 | N | 0.103 | neutral | N | 0.37994542 | None | None | N |
| A/V | 0.1698 | likely_benign | 0.169 | benign | -0.422 | Destabilizing | 0.684 | D | 0.458 | neutral | N | 0.439770089 | None | None | N |
| A/W | 0.8643 | likely_pathogenic | 0.8509 | pathogenic | -1.32 | Destabilizing | 0.996 | D | 0.578 | neutral | None | None | None | None | N |
| A/Y | 0.6062 | likely_pathogenic | 0.5998 | pathogenic | -0.883 | Destabilizing | 0.984 | D | 0.59 | 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.