Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7571 | 22936;22937;22938 | chr2:178721952;178721951;178721950 | chr2:179586679;179586678;179586677 |
| N2AB | 7254 | 21985;21986;21987 | chr2:178721952;178721951;178721950 | chr2:179586679;179586678;179586677 |
| N2A | 6327 | 19204;19205;19206 | chr2:178721952;178721951;178721950 | chr2:179586679;179586678;179586677 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/P | rs776085388  |
-0.563 | 0.994 | N | 0.569 | 0.432 | 0.547426921019 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/P | rs776085388 |
-0.563 | 0.994 | N | 0.569 | 0.432 | 0.547426921019 | gnomAD-4.0.0 | 1.59188E-06 | None | None | None | None | N | None | 0 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | rs1483207603 |
0.622 | 0.998 | N | 0.492 | 0.355 | 0.413113201963 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| H/Y | rs1483207603 |
0.622 | 0.998 | N | 0.492 | 0.355 | 0.413113201963 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| H/Y | rs1483207603 |
0.622 | 0.998 | N | 0.492 | 0.355 | 0.413113201963 | gnomAD-4.0.0 | 6.5722E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47016E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.553 | ambiguous | 0.6516 | pathogenic | -1.02 | Destabilizing | 0.864 | D | 0.469 | neutral | None | None | None | None | N |
| H/C | 0.2746 | likely_benign | 0.2654 | benign | -0.372 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| H/D | 0.6806 | likely_pathogenic | 0.7517 | pathogenic | -1.117 | Destabilizing | 0.959 | D | 0.454 | neutral | N | 0.434548775 | None | None | N |
| H/E | 0.5769 | likely_pathogenic | 0.6602 | pathogenic | -0.992 | Destabilizing | 0.969 | D | 0.466 | neutral | None | None | None | None | N |
| H/F | 0.4009 | ambiguous | 0.4691 | ambiguous | 0.409 | Stabilizing | 0.999 | D | 0.516 | neutral | None | None | None | None | N |
| H/G | 0.6433 | likely_pathogenic | 0.7234 | pathogenic | -1.384 | Destabilizing | 0.969 | D | 0.521 | neutral | None | None | None | None | N |
| H/I | 0.422 | ambiguous | 0.5221 | ambiguous | 0.011 | Stabilizing | 0.991 | D | 0.592 | neutral | None | None | None | None | N |
| H/K | 0.3401 | ambiguous | 0.3891 | ambiguous | -0.859 | Destabilizing | 0.939 | D | 0.47 | neutral | None | None | None | None | N |
| H/L | 0.2262 | likely_benign | 0.2685 | benign | 0.011 | Stabilizing | 0.959 | D | 0.521 | neutral | N | 0.408690326 | None | None | N |
| H/M | 0.6357 | likely_pathogenic | 0.7243 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.594 | neutral | None | None | None | None | N |
| H/N | 0.2802 | likely_benign | 0.3368 | benign | -1.065 | Destabilizing | 0.959 | D | 0.486 | neutral | N | 0.424851857 | None | None | N |
| H/P | 0.8787 | likely_pathogenic | 0.9055 | pathogenic | -0.317 | Destabilizing | 0.994 | D | 0.569 | neutral | N | 0.509854611 | None | None | N |
| H/Q | 0.2711 | likely_benign | 0.3385 | benign | -0.725 | Destabilizing | 0.988 | D | 0.477 | neutral | N | 0.42692937 | None | None | N |
| H/R | 0.1077 | likely_benign | 0.1183 | benign | -1.285 | Destabilizing | 0.068 | N | 0.394 | neutral | N | 0.416712376 | None | None | N |
| H/S | 0.4171 | ambiguous | 0.5136 | ambiguous | -1.078 | Destabilizing | 0.546 | D | 0.312 | neutral | None | None | None | None | N |
| H/T | 0.4331 | ambiguous | 0.5579 | ambiguous | -0.858 | Destabilizing | 0.293 | N | 0.451 | neutral | None | None | None | None | N |
| H/V | 0.3621 | ambiguous | 0.4487 | ambiguous | -0.317 | Destabilizing | 0.969 | D | 0.551 | neutral | None | None | None | None | N |
| H/W | 0.4971 | ambiguous | 0.5446 | ambiguous | 0.621 | Stabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| H/Y | 0.134 | likely_benign | 0.1554 | benign | 0.679 | Stabilizing | 0.998 | D | 0.492 | neutral | N | 0.450691664 | 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.