Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30035 | 90328;90329;90330 | chr2:178552797;178552796;178552795 | chr2:179417524;179417523;179417522 |
| N2AB | 28394 | 85405;85406;85407 | chr2:178552797;178552796;178552795 | chr2:179417524;179417523;179417522 |
| N2A | 27467 | 82624;82625;82626 | chr2:178552797;178552796;178552795 | chr2:179417524;179417523;179417522 |
| N2B | 20970 | 63133;63134;63135 | chr2:178552797;178552796;178552795 | chr2:179417524;179417523;179417522 |
| Novex-1 | 21095 | 63508;63509;63510 | chr2:178552797;178552796;178552795 | chr2:179417524;179417523;179417522 |
| Novex-2 | 21162 | 63709;63710;63711 | chr2:178552797;178552796;178552795 | chr2:179417524;179417523;179417522 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs397517747  |
-0.293 | 0.999 | N | 0.603 | 0.371 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11607E-04 | None | 0 | None | 0 | 0 | 0 |
| R/C | rs397517747 |
-0.293 | 0.999 | N | 0.603 | 0.371 | None | gnomAD-4.0.0 | 6.84189E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52054E-05 | None | 0 | 0 | 7.19555E-06 | 1.15934E-05 | 0 |
| R/H | rs199895320 |
-1.235 | 0.998 | N | 0.536 | 0.281 | None | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.8E-05 | 0 |
| R/H | rs199895320 |
-1.235 | 0.998 | N | 0.536 | 0.281 | None | gnomAD-3.1.2 | 9.86E-05 | None | None | None | None | N | None | 9.65E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.32298E-04 | 2.07297E-04 | 0 |
| R/H | rs199895320 |
-1.235 | 0.998 | N | 0.536 | 0.281 | None | gnomAD-4.0.0 | 4.83313E-05 | None | None | None | None | N | None | 5.33021E-05 | 1.66656E-05 | None | 0 | 0 | None | 0 | 1.65071E-04 | 5.76358E-05 | 3.29395E-05 | 1.60031E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3772 | ambiguous | 0.3583 | ambiguous | -0.679 | Destabilizing | 0.688 | D | 0.516 | neutral | None | None | None | None | N |
| R/C | 0.1854 | likely_benign | 0.1701 | benign | -0.558 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.473992585 | None | None | N |
| R/D | 0.706 | likely_pathogenic | 0.6723 | pathogenic | 0.001 | Stabilizing | 0.842 | D | 0.583 | neutral | None | None | None | None | N |
| R/E | 0.3856 | ambiguous | 0.3549 | ambiguous | 0.14 | Stabilizing | 0.525 | D | 0.505 | neutral | None | None | None | None | N |
| R/F | 0.6056 | likely_pathogenic | 0.583 | pathogenic | -0.425 | Destabilizing | 0.991 | D | 0.592 | neutral | None | None | None | None | N |
| R/G | 0.2402 | likely_benign | 0.2141 | benign | -1.012 | Destabilizing | 0.911 | D | 0.567 | neutral | N | 0.419029457 | None | None | N |
| R/H | 0.1139 | likely_benign | 0.1101 | benign | -1.403 | Destabilizing | 0.998 | D | 0.536 | neutral | N | 0.516577434 | None | None | N |
| R/I | 0.3239 | likely_benign | 0.3026 | benign | 0.219 | Stabilizing | 0.974 | D | 0.591 | neutral | None | None | None | None | N |
| R/K | 0.0782 | likely_benign | 0.0802 | benign | -0.661 | Destabilizing | 0.002 | N | 0.135 | neutral | None | None | None | None | N |
| R/L | 0.2861 | likely_benign | 0.277 | benign | 0.219 | Stabilizing | 0.911 | D | 0.567 | neutral | N | 0.480136631 | None | None | N |
| R/M | 0.2882 | likely_benign | 0.2729 | benign | -0.168 | Destabilizing | 0.991 | D | 0.561 | neutral | None | None | None | None | N |
| R/N | 0.5642 | likely_pathogenic | 0.5518 | ambiguous | -0.177 | Destabilizing | 0.842 | D | 0.538 | neutral | None | None | None | None | N |
| R/P | 0.7653 | likely_pathogenic | 0.7351 | pathogenic | -0.059 | Destabilizing | 0.986 | D | 0.581 | neutral | N | 0.470343712 | None | None | N |
| R/Q | 0.0998 | likely_benign | 0.0962 | benign | -0.276 | Destabilizing | 0.842 | D | 0.565 | neutral | None | None | None | None | N |
| R/S | 0.471 | ambiguous | 0.4458 | ambiguous | -0.894 | Destabilizing | 0.911 | D | 0.542 | neutral | N | 0.458470493 | None | None | N |
| R/T | 0.2121 | likely_benign | 0.2032 | benign | -0.562 | Destabilizing | 0.842 | D | 0.57 | neutral | None | None | None | None | N |
| R/V | 0.3799 | ambiguous | 0.3638 | ambiguous | -0.059 | Destabilizing | 0.974 | D | 0.56 | neutral | None | None | None | None | N |
| R/W | 0.2278 | likely_benign | 0.2051 | benign | -0.106 | Destabilizing | 0.998 | D | 0.661 | neutral | None | None | None | None | N |
| R/Y | 0.4601 | ambiguous | 0.4345 | ambiguous | 0.18 | Stabilizing | 0.991 | D | 0.604 | 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.