Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8158 | 24697;24698;24699 | chr2:178718728;178718727;178718726 | chr2:179583455;179583454;179583453 |
| N2AB | 7841 | 23746;23747;23748 | chr2:178718728;178718727;178718726 | chr2:179583455;179583454;179583453 |
| N2A | 6914 | 20965;20966;20967 | chr2:178718728;178718727;178718726 | chr2:179583455;179583454;179583453 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs551835183  |
-0.164 | 0.801 | N | 0.364 | 0.229 | 0.250579442822 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/N | rs551835183 |
-0.164 | 0.801 | N | 0.364 | 0.229 | 0.250579442822 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs551835183 |
-0.164 | 0.801 | N | 0.364 | 0.229 | 0.250579442822 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/N | rs551835183 |
-0.164 | 0.801 | N | 0.364 | 0.229 | 0.250579442822 | gnomAD-4.0.0 | 4.3378E-06 | None | None | None | None | I | None | 1.33312E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08587E-06 | 0 | 0 |
| S/R | rs1471384765 |
-0.112 | 0.669 | D | 0.42 | 0.249 | 0.299770980665 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| S/R | rs1471384765 |
-0.112 | 0.669 | D | 0.42 | 0.249 | 0.299770980665 | gnomAD-4.0.0 | 3.18266E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.88267E-05 | 0 | 2.85843E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0881 | likely_benign | 0.0902 | benign | -0.421 | Destabilizing | 0.688 | D | 0.357 | neutral | None | None | None | None | I |
| S/C | 0.1421 | likely_benign | 0.1625 | benign | -0.348 | Destabilizing | 0.997 | D | 0.471 | neutral | N | 0.512612584 | None | None | I |
| S/D | 0.2982 | likely_benign | 0.3246 | benign | 0.191 | Stabilizing | 0.842 | D | 0.321 | neutral | None | None | None | None | I |
| S/E | 0.3127 | likely_benign | 0.3295 | benign | 0.101 | Stabilizing | 0.728 | D | 0.3 | neutral | None | None | None | None | I |
| S/F | 0.1592 | likely_benign | 0.1713 | benign | -0.962 | Destabilizing | 0.991 | D | 0.538 | neutral | None | None | None | None | I |
| S/G | 0.1042 | likely_benign | 0.1076 | benign | -0.541 | Destabilizing | 0.625 | D | 0.305 | neutral | N | 0.507977775 | None | None | I |
| S/H | 0.2277 | likely_benign | 0.2437 | benign | -1.015 | Destabilizing | 0.991 | D | 0.459 | neutral | None | None | None | None | I |
| S/I | 0.1109 | likely_benign | 0.1185 | benign | -0.236 | Destabilizing | 0.934 | D | 0.531 | neutral | N | 0.503142383 | None | None | I |
| S/K | 0.3256 | likely_benign | 0.3544 | ambiguous | -0.489 | Destabilizing | 0.007 | N | 0.152 | neutral | None | None | None | None | I |
| S/L | 0.1014 | likely_benign | 0.1077 | benign | -0.236 | Destabilizing | 0.842 | D | 0.495 | neutral | None | None | None | None | I |
| S/M | 0.1554 | likely_benign | 0.1642 | benign | -0.004 | Destabilizing | 0.991 | D | 0.458 | neutral | None | None | None | None | I |
| S/N | 0.0957 | likely_benign | 0.107 | benign | -0.227 | Destabilizing | 0.801 | D | 0.364 | neutral | N | 0.498013821 | None | None | I |
| S/P | 0.5925 | likely_pathogenic | 0.5771 | pathogenic | -0.269 | Destabilizing | 0.974 | D | 0.425 | neutral | None | None | None | None | I |
| S/Q | 0.2972 | likely_benign | 0.3125 | benign | -0.49 | Destabilizing | 0.949 | D | 0.393 | neutral | None | None | None | None | I |
| S/R | 0.2656 | likely_benign | 0.2873 | benign | -0.271 | Destabilizing | 0.669 | D | 0.42 | neutral | D | 0.531366033 | None | None | I |
| S/T | 0.0689 | likely_benign | 0.0745 | benign | -0.359 | Destabilizing | 0.051 | N | 0.166 | neutral | D | 0.530115239 | None | None | I |
| S/V | 0.1314 | likely_benign | 0.1405 | benign | -0.269 | Destabilizing | 0.842 | D | 0.499 | neutral | None | None | None | None | I |
| S/W | 0.3187 | likely_benign | 0.3188 | benign | -0.94 | Destabilizing | 0.998 | D | 0.623 | neutral | None | None | None | None | I |
| S/Y | 0.1549 | likely_benign | 0.1569 | benign | -0.671 | Destabilizing | 0.991 | D | 0.538 | neutral | None | None | None | None | I |
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.