Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15725 | 47398;47399;47400 | chr2:178618285;178618284;178618283 | chr2:179483012;179483011;179483010 |
| N2AB | 14084 | 42475;42476;42477 | chr2:178618285;178618284;178618283 | chr2:179483012;179483011;179483010 |
| N2A | 13157 | 39694;39695;39696 | chr2:178618285;178618284;178618283 | chr2:179483012;179483011;179483010 |
| N2B | 6660 | 20203;20204;20205 | chr2:178618285;178618284;178618283 | chr2:179483012;179483011;179483010 |
| Novex-1 | 6785 | 20578;20579;20580 | chr2:178618285;178618284;178618283 | chr2:179483012;179483011;179483010 |
| Novex-2 | 6852 | 20779;20780;20781 | chr2:178618285;178618284;178618283 | chr2:179483012;179483011;179483010 |
| 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/R | rs1344306392  |
-0.658 | 0.999 | D | 0.83 | 0.539 | 0.690963032294 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1344306392 |
-0.658 | 0.999 | D | 0.83 | 0.539 | 0.690963032294 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1344306392 |
-0.658 | 0.999 | D | 0.83 | 0.539 | 0.690963032294 | gnomAD-4.0.0 | 2.56567E-06 | None | None | None | None | N | None | 1.69417E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.3966E-06 | 0 | 0 |
| G/V | rs776647163 |
-0.653 | 1.0 | D | 0.793 | 0.489 | 0.681401495644 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs776647163 |
-0.653 | 1.0 | D | 0.793 | 0.489 | 0.681401495644 | gnomAD-4.0.0 | 1.59337E-06 | None | None | None | None | N | None | 0 | 2.28885E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.1706 | likely_benign | 0.1768 | benign | -0.291 | Destabilizing | 0.996 | D | 0.619 | neutral | N | 0.481374576 | None | None | N |
| G/C | 0.3093 | likely_benign | 0.2415 | benign | -0.967 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/D | 0.3334 | likely_benign | 0.3344 | benign | -0.762 | Destabilizing | 0.335 | N | 0.43 | neutral | None | None | None | None | N |
| G/E | 0.3538 | ambiguous | 0.3568 | ambiguous | -0.928 | Destabilizing | 0.984 | D | 0.671 | neutral | D | 0.524507349 | None | None | N |
| G/F | 0.6674 | likely_pathogenic | 0.6834 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| G/H | 0.5015 | ambiguous | 0.4687 | ambiguous | -0.397 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/I | 0.4104 | ambiguous | 0.4346 | ambiguous | -0.518 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/K | 0.5623 | ambiguous | 0.5429 | ambiguous | -0.81 | Destabilizing | 0.998 | D | 0.801 | deleterious | None | None | None | None | N |
| G/L | 0.5268 | ambiguous | 0.5518 | ambiguous | -0.518 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| G/M | 0.5241 | ambiguous | 0.5361 | ambiguous | -0.649 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/N | 0.2768 | likely_benign | 0.2578 | benign | -0.465 | Destabilizing | 0.998 | D | 0.821 | deleterious | None | None | None | None | N |
| G/P | 0.7469 | likely_pathogenic | 0.7344 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/Q | 0.4 | ambiguous | 0.3827 | ambiguous | -0.772 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| G/R | 0.4369 | ambiguous | 0.429 | ambiguous | -0.322 | Destabilizing | 0.999 | D | 0.83 | deleterious | D | 0.591861278 | None | None | N |
| G/S | 0.1224 | likely_benign | 0.1255 | benign | -0.576 | Destabilizing | 0.994 | D | 0.706 | prob.neutral | None | None | None | None | N |
| G/T | 0.2011 | likely_benign | 0.1971 | benign | -0.682 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| G/V | 0.2901 | likely_benign | 0.309 | benign | -0.414 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.633361428 | None | None | N |
| G/W | 0.5597 | ambiguous | 0.5485 | ambiguous | -1.153 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/Y | 0.5777 | likely_pathogenic | 0.5592 | ambiguous | -0.837 | Destabilizing | 1.0 | D | 0.807 | deleterious | 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.