Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5984 | 18175;18176;18177 | chr2:178730583;178730582;178730581 | chr2:179595310;179595309;179595308 |
| N2AB | 5667 | 17224;17225;17226 | chr2:178730583;178730582;178730581 | chr2:179595310;179595309;179595308 |
| N2A | 4740 | 14443;14444;14445 | chr2:178730583;178730582;178730581 | chr2:179595310;179595309;179595308 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs772384158  |
0.113 | None | N | 0.081 | 0.077 | None | gnomAD-2.1.1 | 4.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.12404E-04 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs772384158 |
0.113 | None | N | 0.081 | 0.077 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.78481E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs772384158 |
0.113 | None | N | 0.081 | 0.077 | None | gnomAD-4.0.0 | 5.14395E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.8275E-03 | None | 0 | 0 | 8.47696E-07 | 0 | 0 |
| T/I | None | None | 0.055 | N | 0.302 | 0.136 | 0.233150807113 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/P | None | None | None | N | 0.167 | 0.161 | 0.0297737177859 | gnomAD-4.0.0 | 6.8428E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99562E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0608 | likely_benign | 0.0578 | benign | -0.249 | Destabilizing | None | N | 0.081 | neutral | N | 0.419978315 | None | None | N |
| T/C | 0.3174 | likely_benign | 0.3075 | benign | -0.21 | Destabilizing | 0.356 | N | 0.284 | neutral | None | None | None | None | N |
| T/D | 0.1676 | likely_benign | 0.1602 | benign | 0.102 | Stabilizing | 0.016 | N | 0.213 | neutral | None | None | None | None | N |
| T/E | 0.1567 | likely_benign | 0.148 | benign | 0.004 | Stabilizing | 0.016 | N | 0.233 | neutral | None | None | None | None | N |
| T/F | 0.1537 | likely_benign | 0.1571 | benign | -0.916 | Destabilizing | 0.356 | N | 0.35 | neutral | None | None | None | None | N |
| T/G | 0.1311 | likely_benign | 0.1226 | benign | -0.305 | Destabilizing | 0.016 | N | 0.185 | neutral | None | None | None | None | N |
| T/H | 0.1623 | likely_benign | 0.1516 | benign | -0.548 | Destabilizing | 0.356 | N | 0.294 | neutral | None | None | None | None | N |
| T/I | 0.1145 | likely_benign | 0.1163 | benign | -0.223 | Destabilizing | 0.055 | N | 0.302 | neutral | N | 0.498479171 | None | None | N |
| T/K | 0.1141 | likely_benign | 0.1133 | benign | -0.177 | Destabilizing | None | N | 0.119 | neutral | N | 0.432984898 | None | None | N |
| T/L | 0.0791 | likely_benign | 0.0776 | benign | -0.223 | Destabilizing | 0.016 | N | 0.228 | neutral | None | None | None | None | N |
| T/M | 0.0775 | likely_benign | 0.078 | benign | -0.037 | Destabilizing | 0.628 | D | 0.277 | neutral | None | None | None | None | N |
| T/N | 0.0728 | likely_benign | 0.0722 | benign | 0.047 | Stabilizing | 0.038 | N | 0.094 | neutral | None | None | None | None | N |
| T/P | 0.0956 | likely_benign | 0.0931 | benign | -0.208 | Destabilizing | None | N | 0.167 | neutral | N | 0.511869756 | None | None | N |
| T/Q | 0.1491 | likely_benign | 0.1369 | benign | -0.203 | Destabilizing | 0.072 | N | 0.284 | neutral | None | None | None | None | N |
| T/R | 0.109 | likely_benign | 0.1087 | benign | 0.095 | Stabilizing | 0.029 | N | 0.226 | neutral | N | 0.450031863 | None | None | N |
| T/S | 0.0667 | likely_benign | 0.0648 | benign | -0.141 | Destabilizing | None | N | 0.087 | neutral | N | 0.340418666 | None | None | N |
| T/V | 0.1043 | likely_benign | 0.1024 | benign | -0.208 | Destabilizing | 0.016 | N | 0.137 | neutral | None | None | None | None | N |
| T/W | 0.3772 | ambiguous | 0.3745 | ambiguous | -0.962 | Destabilizing | 0.864 | D | 0.299 | neutral | None | None | None | None | N |
| T/Y | 0.2032 | likely_benign | 0.2047 | benign | -0.651 | Destabilizing | 0.356 | N | 0.339 | 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.