Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7856 | 23791;23792;23793 | chr2:178720076;178720075;178720074 | chr2:179584803;179584802;179584801 |
| N2AB | 7539 | 22840;22841;22842 | chr2:178720076;178720075;178720074 | chr2:179584803;179584802;179584801 |
| N2A | 6612 | 20059;20060;20061 | chr2:178720076;178720075;178720074 | chr2:179584803;179584802;179584801 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | None | N | 0.089 | 0.082 | 0.0297737177859 | gnomAD-4.0.0 | 6.8425E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99522E-07 | 0 | 0 |
| G/E | rs919783694  |
-1.065 | 0.012 | N | 0.381 | 0.042 | 0.107399877778 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/E | rs919783694 |
-1.065 | 0.012 | N | 0.381 | 0.042 | 0.107399877778 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs919783694 |
-1.065 | 0.012 | N | 0.381 | 0.042 | 0.107399877778 | gnomAD-4.0.0 | 8.67678E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18674E-05 | 0 | 0 |
| G/R | None | None | None | N | 0.295 | 0.107 | 0.165133752707 | gnomAD-4.0.0 | 1.59148E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85878E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0872 | likely_benign | 0.0793 | benign | -0.491 | Destabilizing | None | N | 0.089 | neutral | N | 0.379983572 | None | None | N |
| G/C | 0.1867 | likely_benign | 0.1471 | benign | -0.978 | Destabilizing | 0.356 | N | 0.482 | neutral | None | None | None | None | N |
| G/D | 0.1255 | likely_benign | 0.1169 | benign | -0.69 | Destabilizing | 0.072 | N | 0.418 | neutral | None | None | None | None | N |
| G/E | 0.121 | likely_benign | 0.1124 | benign | -0.835 | Destabilizing | 0.012 | N | 0.381 | neutral | N | 0.4069381 | None | None | N |
| G/F | 0.3391 | likely_benign | 0.2566 | benign | -1.226 | Destabilizing | 0.214 | N | 0.521 | neutral | None | None | None | None | N |
| G/H | 0.2191 | likely_benign | 0.1821 | benign | -0.768 | Destabilizing | 0.356 | N | 0.471 | neutral | None | None | None | None | N |
| G/I | 0.1434 | likely_benign | 0.1179 | benign | -0.542 | Destabilizing | 0.038 | N | 0.49 | neutral | None | None | None | None | N |
| G/K | 0.2218 | likely_benign | 0.1824 | benign | -0.77 | Destabilizing | 0.016 | N | 0.386 | neutral | None | None | None | None | N |
| G/L | 0.2103 | likely_benign | 0.1677 | benign | -0.542 | Destabilizing | None | N | 0.235 | neutral | None | None | None | None | N |
| G/M | 0.2947 | likely_benign | 0.2394 | benign | -0.447 | Destabilizing | 0.002 | N | 0.355 | neutral | None | None | None | None | N |
| G/N | 0.1839 | likely_benign | 0.1539 | benign | -0.474 | Destabilizing | 0.038 | N | 0.321 | neutral | None | None | None | None | N |
| G/P | 0.4688 | ambiguous | 0.3814 | ambiguous | -0.491 | Destabilizing | None | N | 0.163 | neutral | None | None | None | None | N |
| G/Q | 0.1765 | likely_benign | 0.1493 | benign | -0.791 | Destabilizing | 0.001 | N | 0.309 | neutral | None | None | None | None | N |
| G/R | 0.1506 | likely_benign | 0.1249 | benign | -0.377 | Destabilizing | None | N | 0.295 | neutral | N | 0.391758003 | None | None | N |
| G/S | 0.0823 | likely_benign | 0.076 | benign | -0.675 | Destabilizing | None | N | 0.125 | neutral | None | None | None | None | N |
| G/T | 0.1119 | likely_benign | 0.0984 | benign | -0.752 | Destabilizing | 0.016 | N | 0.382 | neutral | None | None | None | None | N |
| G/V | 0.1061 | likely_benign | 0.0931 | benign | -0.491 | Destabilizing | 0.012 | N | 0.434 | neutral | N | 0.45149974 | None | None | N |
| G/W | 0.2576 | likely_benign | 0.2165 | benign | -1.359 | Destabilizing | 0.828 | D | 0.459 | neutral | N | 0.51666594 | None | None | N |
| G/Y | 0.2563 | likely_benign | 0.1966 | benign | -0.99 | Destabilizing | 0.356 | N | 0.516 | 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.