Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15094 | 45505;45506;45507 | chr2:178621544;178621543;178621542 | chr2:179486271;179486270;179486269 |
| N2AB | 13453 | 40582;40583;40584 | chr2:178621544;178621543;178621542 | chr2:179486271;179486270;179486269 |
| N2A | 12526 | 37801;37802;37803 | chr2:178621544;178621543;178621542 | chr2:179486271;179486270;179486269 |
| N2B | 6029 | 18310;18311;18312 | chr2:178621544;178621543;178621542 | chr2:179486271;179486270;179486269 |
| Novex-1 | 6154 | 18685;18686;18687 | chr2:178621544;178621543;178621542 | chr2:179486271;179486270;179486269 |
| Novex-2 | 6221 | 18886;18887;18888 | chr2:178621544;178621543;178621542 | chr2:179486271;179486270;179486269 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | None | None | 0.934 | D | 0.249 | 0.394 | 0.701127891572 | gnomAD-4.0.0 | 1.59388E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43332E-05 | 0 |
| L/I | rs1281104886  |
-0.585 | 0.669 | D | 0.236 | 0.341 | 0.552367828057 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66279E-04 |
| L/I | rs1281104886 |
-0.585 | 0.669 | D | 0.236 | 0.341 | 0.552367828057 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/I | rs1281104886 |
-0.585 | 0.669 | D | 0.236 | 0.341 | 0.552367828057 | gnomAD-4.0.0 | 3.84945E-06 | None | None | None | None | N | None | 1.69205E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 5.69606E-05 |
| L/V | rs1281104886 |
None | 0.454 | N | 0.243 | 0.328 | 0.534093007224 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/V | rs1281104886 |
None | 0.454 | N | 0.243 | 0.328 | 0.534093007224 | gnomAD-4.0.0 | 6.58701E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47297E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1273 | likely_benign | 0.1354 | benign | -1.372 | Destabilizing | 0.688 | D | 0.255 | neutral | None | None | None | None | N |
| L/C | 0.5303 | ambiguous | 0.6122 | pathogenic | -0.675 | Destabilizing | 0.998 | D | 0.289 | neutral | None | None | None | None | N |
| L/D | 0.4967 | ambiguous | 0.5503 | ambiguous | -1.048 | Destabilizing | 0.974 | D | 0.373 | neutral | None | None | None | None | N |
| L/E | 0.2202 | likely_benign | 0.2397 | benign | -1.119 | Destabilizing | 0.949 | D | 0.361 | neutral | None | None | None | None | N |
| L/F | 0.1329 | likely_benign | 0.1496 | benign | -1.176 | Destabilizing | 0.934 | D | 0.249 | neutral | D | 0.542745665 | None | None | N |
| L/G | 0.3278 | likely_benign | 0.3708 | ambiguous | -1.61 | Destabilizing | 0.842 | D | 0.341 | neutral | None | None | None | None | N |
| L/H | 0.1725 | likely_benign | 0.1831 | benign | -0.864 | Destabilizing | 0.997 | D | 0.36 | neutral | D | 0.625449569 | None | None | N |
| L/I | 0.077 | likely_benign | 0.0824 | benign | -0.825 | Destabilizing | 0.669 | D | 0.236 | neutral | D | 0.546503714 | None | None | N |
| L/K | 0.1575 | likely_benign | 0.1695 | benign | -0.918 | Destabilizing | 0.842 | D | 0.325 | neutral | None | None | None | None | N |
| L/M | 0.1077 | likely_benign | 0.1102 | benign | -0.537 | Destabilizing | 0.172 | N | 0.211 | neutral | None | None | None | None | N |
| L/N | 0.2738 | likely_benign | 0.3064 | benign | -0.598 | Destabilizing | 0.974 | D | 0.377 | neutral | None | None | None | None | N |
| L/P | 0.1095 | likely_benign | 0.1155 | benign | -0.975 | Destabilizing | 0.005 | N | 0.285 | neutral | N | 0.507437265 | None | None | N |
| L/Q | 0.1026 | likely_benign | 0.1048 | benign | -0.89 | Destabilizing | 0.974 | D | 0.359 | neutral | None | None | None | None | N |
| L/R | 0.125 | likely_benign | 0.1356 | benign | -0.217 | Destabilizing | 0.966 | D | 0.367 | neutral | D | 0.538023506 | None | None | N |
| L/S | 0.1377 | likely_benign | 0.151 | benign | -1.066 | Destabilizing | 0.728 | D | 0.322 | neutral | None | None | None | None | N |
| L/T | 0.1249 | likely_benign | 0.127 | benign | -1.038 | Destabilizing | 0.067 | N | 0.208 | neutral | None | None | None | None | N |
| L/V | 0.0858 | likely_benign | 0.0905 | benign | -0.975 | Destabilizing | 0.454 | N | 0.243 | neutral | N | 0.517353876 | None | None | N |
| L/W | 0.221 | likely_benign | 0.252 | benign | -1.187 | Destabilizing | 0.998 | D | 0.389 | neutral | None | None | None | None | N |
| L/Y | 0.3284 | likely_benign | 0.3631 | ambiguous | -0.987 | Destabilizing | 0.991 | D | 0.26 | 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.