Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8636 | 26131;26132;26133 | chr2:178715508;178715507;178715506 | chr2:179580235;179580234;179580233 |
| N2AB | 8319 | 25180;25181;25182 | chr2:178715508;178715507;178715506 | chr2:179580235;179580234;179580233 |
| N2A | 7392 | 22399;22400;22401 | chr2:178715508;178715507;178715506 | chr2:179580235;179580234;179580233 |
| 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/A | rs1448059327  |
-0.887 | None | N | 0.137 | 0.069 | 0.0884992946249 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| S/A | rs1448059327 |
-0.887 | None | N | 0.137 | 0.069 | 0.0884992946249 | gnomAD-4.0.0 | 1.59608E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87054E-06 | 0 | 0 |
| S/T | rs1448059327 |
-0.403 | None | N | 0.147 | 0.089 | 0.0806252709748 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| S/T | rs1448059327 |
-0.403 | None | N | 0.147 | 0.089 | 0.0806252709748 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/T | rs1448059327 |
-0.403 | None | N | 0.147 | 0.089 | 0.0806252709748 | gnomAD-4.0.0 | 3.85262E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.20458E-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 | 0.068 | likely_benign | 0.0664 | benign | -0.804 | Destabilizing | None | N | 0.137 | neutral | N | 0.473435237 | None | None | N |
| S/C | 0.1439 | likely_benign | 0.1166 | benign | -0.646 | Destabilizing | 0.951 | D | 0.586 | neutral | N | 0.499307722 | None | None | N |
| S/D | 0.5238 | ambiguous | 0.3921 | ambiguous | -0.52 | Destabilizing | 0.324 | N | 0.526 | neutral | None | None | None | None | N |
| S/E | 0.5605 | ambiguous | 0.4201 | ambiguous | -0.548 | Destabilizing | 0.018 | N | 0.195 | neutral | None | None | None | None | N |
| S/F | 0.1462 | likely_benign | 0.1193 | benign | -1.287 | Destabilizing | 0.951 | D | 0.642 | neutral | D | 0.522343905 | None | None | N |
| S/G | 0.1324 | likely_benign | 0.1227 | benign | -0.986 | Destabilizing | 0.268 | N | 0.509 | neutral | None | None | None | None | N |
| S/H | 0.3386 | likely_benign | 0.2547 | benign | -1.567 | Destabilizing | 0.987 | D | 0.599 | neutral | None | None | None | None | N |
| S/I | 0.1295 | likely_benign | 0.1113 | benign | -0.43 | Destabilizing | 0.642 | D | 0.662 | neutral | None | None | None | None | N |
| S/K | 0.6298 | likely_pathogenic | 0.4533 | ambiguous | -0.604 | Destabilizing | 0.782 | D | 0.526 | neutral | None | None | None | None | N |
| S/L | 0.0797 | likely_benign | 0.0797 | benign | -0.43 | Destabilizing | 0.642 | D | 0.629 | neutral | None | None | None | None | N |
| S/M | 0.1619 | likely_benign | 0.1605 | benign | 0.011 | Stabilizing | 0.962 | D | 0.601 | neutral | None | None | None | None | N |
| S/N | 0.1728 | likely_benign | 0.1463 | benign | -0.576 | Destabilizing | 0.101 | N | 0.526 | neutral | None | None | None | None | N |
| S/P | 0.5327 | ambiguous | 0.356 | ambiguous | -0.525 | Destabilizing | 0.594 | D | 0.613 | neutral | N | 0.495838229 | None | None | N |
| S/Q | 0.4633 | ambiguous | 0.3593 | ambiguous | -0.861 | Destabilizing | 0.926 | D | 0.582 | neutral | None | None | None | None | N |
| S/R | 0.5544 | ambiguous | 0.3688 | ambiguous | -0.444 | Destabilizing | 0.782 | D | 0.615 | neutral | None | None | None | None | N |
| S/T | 0.0812 | likely_benign | 0.0767 | benign | -0.613 | Destabilizing | None | N | 0.147 | neutral | N | 0.458484428 | None | None | N |
| S/V | 0.1289 | likely_benign | 0.1127 | benign | -0.525 | Destabilizing | 0.401 | N | 0.629 | neutral | None | None | None | None | N |
| S/W | 0.3327 | likely_benign | 0.2502 | benign | -1.222 | Destabilizing | 0.997 | D | 0.673 | neutral | None | None | None | None | N |
| S/Y | 0.1579 | likely_benign | 0.1202 | benign | -0.938 | Destabilizing | 0.983 | D | 0.646 | neutral | N | 0.517572804 | 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.