Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34152 | 102679;102680;102681 | chr2:178534161;178534160;178534159 | chr2:179398888;179398887;179398886 |
| N2AB | 32511 | 97756;97757;97758 | chr2:178534161;178534160;178534159 | chr2:179398888;179398887;179398886 |
| N2A | 31584 | 94975;94976;94977 | chr2:178534161;178534160;178534159 | chr2:179398888;179398887;179398886 |
| N2B | 25087 | 75484;75485;75486 | chr2:178534161;178534160;178534159 | chr2:179398888;179398887;179398886 |
| Novex-1 | 25212 | 75859;75860;75861 | chr2:178534161;178534160;178534159 | chr2:179398888;179398887;179398886 |
| Novex-2 | 25279 | 76060;76061;76062 | chr2:178534161;178534160;178534159 | chr2:179398888;179398887;179398886 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/L | None | None | 0.012 | N | 0.353 | 0.068 | 0.282179105231 | 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 |
| H/Q | rs758384544  |
-0.185 | 0.055 | N | 0.194 | 0.055 | 0.159798565429 | gnomAD-2.1.1 | 7.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.88197E-04 | None | 0 | 0 | 0 |
| H/Q | rs758384544 |
-0.185 | 0.055 | N | 0.194 | 0.055 | 0.159798565429 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14079E-04 | 0 |
| H/Q | rs758384544 |
-0.185 | 0.055 | N | 0.194 | 0.055 | 0.159798565429 | gnomAD-4.0.0 | 3.59395E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.36747E-04 | 0 |
| H/R | None | None | None | N | 0.153 | 0.089 | 0.112648838833 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.2767 | likely_benign | 0.3004 | benign | -0.509 | Destabilizing | 0.016 | N | 0.302 | neutral | None | None | None | None | N |
| H/C | 0.1484 | likely_benign | 0.1919 | benign | 0.255 | Stabilizing | 0.676 | D | 0.245 | neutral | None | None | None | None | N |
| H/D | 0.2002 | likely_benign | 0.2474 | benign | -0.36 | Destabilizing | None | N | 0.132 | neutral | N | 0.382246646 | None | None | N |
| H/E | 0.2869 | likely_benign | 0.3231 | benign | -0.263 | Destabilizing | 0.016 | N | 0.227 | neutral | None | None | None | None | N |
| H/F | 0.1816 | likely_benign | 0.1869 | benign | 0.739 | Stabilizing | 0.038 | N | 0.277 | neutral | None | None | None | None | N |
| H/G | 0.3771 | ambiguous | 0.4196 | ambiguous | -0.876 | Destabilizing | 0.016 | N | 0.319 | neutral | None | None | None | None | N |
| H/I | 0.3187 | likely_benign | 0.3506 | ambiguous | 0.496 | Stabilizing | 0.072 | N | 0.344 | neutral | None | None | None | None | N |
| H/K | 0.2735 | likely_benign | 0.2803 | benign | -0.299 | Destabilizing | 0.016 | N | 0.287 | neutral | None | None | None | None | N |
| H/L | 0.1679 | likely_benign | 0.1814 | benign | 0.496 | Stabilizing | 0.012 | N | 0.353 | neutral | N | 0.436043845 | None | None | N |
| H/M | 0.4453 | ambiguous | 0.4737 | ambiguous | 0.282 | Stabilizing | 0.356 | N | 0.246 | neutral | None | None | None | None | N |
| H/N | 0.0953 | likely_benign | 0.1131 | benign | -0.467 | Destabilizing | 0.012 | N | 0.193 | neutral | N | 0.398562893 | None | None | N |
| H/P | 0.4357 | ambiguous | 0.4906 | ambiguous | 0.183 | Stabilizing | 0.106 | N | 0.329 | neutral | N | 0.421997113 | None | None | N |
| H/Q | 0.192 | likely_benign | 0.2162 | benign | -0.24 | Destabilizing | 0.055 | N | 0.194 | neutral | N | 0.426885645 | None | None | N |
| H/R | 0.1407 | likely_benign | 0.148 | benign | -0.848 | Destabilizing | None | N | 0.153 | neutral | N | 0.411820192 | None | None | N |
| H/S | 0.1835 | likely_benign | 0.203 | benign | -0.459 | Destabilizing | None | N | 0.15 | neutral | None | None | None | None | N |
| H/T | 0.2448 | likely_benign | 0.2782 | benign | -0.252 | Destabilizing | 0.038 | N | 0.319 | neutral | None | None | None | None | N |
| H/V | 0.273 | likely_benign | 0.2971 | benign | 0.183 | Stabilizing | 0.072 | N | 0.351 | neutral | None | None | None | None | N |
| H/W | 0.3257 | likely_benign | 0.3275 | benign | 1.029 | Stabilizing | 0.676 | D | 0.237 | neutral | None | None | None | None | N |
| H/Y | 0.0613 | likely_benign | 0.0643 | benign | 1.092 | Stabilizing | None | N | 0.105 | neutral | N | 0.450301222 | 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.