Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35739 | 107440;107441;107442 | chr2:178528536;178528535;178528534 | chr2:179393263;179393262;179393261 |
| N2AB | 34098 | 102517;102518;102519 | chr2:178528536;178528535;178528534 | chr2:179393263;179393262;179393261 |
| N2A | 33171 | 99736;99737;99738 | chr2:178528536;178528535;178528534 | chr2:179393263;179393262;179393261 |
| N2B | 26674 | 80245;80246;80247 | chr2:178528536;178528535;178528534 | chr2:179393263;179393262;179393261 |
| Novex-1 | 26799 | 80620;80621;80622 | chr2:178528536;178528535;178528534 | chr2:179393263;179393262;179393261 |
| Novex-2 | 26866 | 80821;80822;80823 | chr2:178528536;178528535;178528534 | chr2:179393263;179393262;179393261 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs771983508  |
None | 0.999 | N | 0.589 | 0.337 | 0.143124449307 | gnomAD-4.0.0 | 1.61948E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.07333E-05 |
| N/T | rs771983508 |
0.36 | 0.999 | N | 0.683 | 0.445 | None | gnomAD-2.1.1 | 8.26978E-04 | None | None | None | None | N | None | 3.92616E-03 | 9E-05 | None | 4.15024E-04 | 0 | None | 0 | None | 2.34338E-03 | 7.571E-04 | 5.22284E-04 |
| N/T | rs771983508 |
0.36 | 0.999 | N | 0.683 | 0.445 | None | gnomAD-4.0.0 | 7.93545E-05 | None | None | None | None | N | None | 0 | 2.35018E-05 | None | 0 | 2.79345E-05 | None | 7.09383E-04 | 0 | 2.90789E-06 | 0 | 2.766E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.562 | ambiguous | 0.5317 | ambiguous | -0.4 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| N/C | 0.6999 | likely_pathogenic | 0.7269 | pathogenic | 0.251 | Stabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| N/D | 0.1931 | likely_benign | 0.1667 | benign | 0.218 | Stabilizing | 0.999 | D | 0.623 | neutral | N | 0.445298047 | None | None | N |
| N/E | 0.6663 | likely_pathogenic | 0.6109 | pathogenic | 0.201 | Stabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| N/F | 0.8703 | likely_pathogenic | 0.8511 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| N/G | 0.4208 | ambiguous | 0.3974 | ambiguous | -0.588 | Destabilizing | 0.999 | D | 0.586 | neutral | None | None | None | None | N |
| N/H | 0.2299 | likely_benign | 0.218 | benign | -0.534 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | N | 0.488571608 | None | None | N |
| N/I | 0.6315 | likely_pathogenic | 0.6147 | pathogenic | 0.009 | Stabilizing | 1.0 | D | 0.692 | prob.neutral | N | 0.483141666 | None | None | N |
| N/K | 0.6464 | likely_pathogenic | 0.6029 | pathogenic | 0.068 | Stabilizing | 1.0 | D | 0.7 | prob.neutral | N | 0.477757182 | None | None | N |
| N/L | 0.6133 | likely_pathogenic | 0.5903 | pathogenic | 0.009 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| N/M | 0.7202 | likely_pathogenic | 0.7031 | pathogenic | 0.222 | Stabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| N/P | 0.9208 | likely_pathogenic | 0.9197 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| N/Q | 0.6182 | likely_pathogenic | 0.5751 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| N/R | 0.672 | likely_pathogenic | 0.6272 | pathogenic | 0.111 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| N/S | 0.1288 | likely_benign | 0.1261 | benign | -0.202 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.478930618 | None | None | N |
| N/T | 0.3521 | ambiguous | 0.3359 | benign | -0.066 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | N | 0.491110481 | None | None | N |
| N/V | 0.6781 | likely_pathogenic | 0.6613 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| N/W | 0.9621 | likely_pathogenic | 0.9577 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| N/Y | 0.4178 | ambiguous | 0.3932 | ambiguous | -0.451 | Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.460010982 | 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.