Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17594 | 53005;53006;53007 | chr2:178608007;178608006;178608005 | chr2:179472734;179472733;179472732 |
| N2AB | 15953 | 48082;48083;48084 | chr2:178608007;178608006;178608005 | chr2:179472734;179472733;179472732 |
| N2A | 15026 | 45301;45302;45303 | chr2:178608007;178608006;178608005 | chr2:179472734;179472733;179472732 |
| N2B | 8529 | 25810;25811;25812 | chr2:178608007;178608006;178608005 | chr2:179472734;179472733;179472732 |
| Novex-1 | 8654 | 26185;26186;26187 | chr2:178608007;178608006;178608005 | chr2:179472734;179472733;179472732 |
| Novex-2 | 8721 | 26386;26387;26388 | chr2:178608007;178608006;178608005 | chr2:179472734;179472733;179472732 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1267329743  |
None | 0.815 | N | 0.202 | 0.101 | 0.210429274316 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs1267329743 |
None | 0.815 | N | 0.202 | 0.101 | 0.210429274316 | gnomAD-4.0.0 | 6.57531E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47215E-05 | 0 | 0 |
| A/V | rs1267329743 |
None | 0.003 | N | 0.068 | 0.159 | 0.206339911435 | gnomAD-4.0.0 | 3.18648E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72269E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4643 | ambiguous | 0.4083 | ambiguous | -0.771 | Destabilizing | 0.996 | D | 0.259 | neutral | None | None | None | None | I |
| A/D | 0.2356 | likely_benign | 0.193 | benign | -0.576 | Destabilizing | 0.979 | D | 0.363 | neutral | N | 0.455488903 | None | None | I |
| A/E | 0.1685 | likely_benign | 0.1473 | benign | -0.721 | Destabilizing | 0.953 | D | 0.278 | neutral | None | None | None | None | I |
| A/F | 0.3197 | likely_benign | 0.2457 | benign | -0.866 | Destabilizing | 0.91 | D | 0.345 | neutral | None | None | None | None | I |
| A/G | 0.1517 | likely_benign | 0.1391 | benign | -0.333 | Destabilizing | 0.815 | D | 0.202 | neutral | N | 0.481752784 | None | None | I |
| A/H | 0.3864 | ambiguous | 0.3407 | ambiguous | -0.355 | Destabilizing | 0.996 | D | 0.321 | neutral | None | None | None | None | I |
| A/I | 0.153 | likely_benign | 0.1201 | benign | -0.346 | Destabilizing | 0.037 | N | 0.148 | neutral | None | None | None | None | I |
| A/K | 0.2829 | likely_benign | 0.2457 | benign | -0.73 | Destabilizing | 0.742 | D | 0.306 | neutral | None | None | None | None | I |
| A/L | 0.1152 | likely_benign | 0.0979 | benign | -0.346 | Destabilizing | 0.004 | N | 0.138 | neutral | None | None | None | None | I |
| A/M | 0.1811 | likely_benign | 0.1511 | benign | -0.509 | Destabilizing | 0.206 | N | 0.222 | neutral | None | None | None | None | I |
| A/N | 0.2091 | likely_benign | 0.1772 | benign | -0.388 | Destabilizing | 0.984 | D | 0.357 | neutral | None | None | None | None | I |
| A/P | 0.1431 | likely_benign | 0.1475 | benign | -0.294 | Destabilizing | 0.979 | D | 0.277 | neutral | N | 0.480365918 | None | None | I |
| A/Q | 0.233 | likely_benign | 0.2139 | benign | -0.651 | Destabilizing | 0.953 | D | 0.267 | neutral | None | None | None | None | I |
| A/R | 0.2712 | likely_benign | 0.2357 | benign | -0.265 | Destabilizing | 0.953 | D | 0.265 | neutral | None | None | None | None | I |
| A/S | 0.0943 | likely_benign | 0.0918 | benign | -0.559 | Destabilizing | 0.684 | D | 0.235 | neutral | N | 0.462588234 | None | None | I |
| A/T | 0.081 | likely_benign | 0.0744 | benign | -0.629 | Destabilizing | 0.684 | D | 0.207 | neutral | N | 0.457566416 | None | None | I |
| A/V | 0.0904 | likely_benign | 0.0793 | benign | -0.294 | Destabilizing | 0.003 | N | 0.068 | neutral | N | 0.438751369 | None | None | I |
| A/W | 0.6656 | likely_pathogenic | 0.5903 | pathogenic | -1.016 | Destabilizing | 0.996 | D | 0.38 | neutral | None | None | None | None | I |
| A/Y | 0.3913 | ambiguous | 0.3298 | benign | -0.682 | Destabilizing | 0.953 | D | 0.358 | 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.