Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 119 | 580;581;582 | chr2:178800623;178800622;178800621 | chr2:179665350;179665349;179665348 |
| N2AB | 119 | 580;581;582 | chr2:178800623;178800622;178800621 | chr2:179665350;179665349;179665348 |
| N2A | 119 | 580;581;582 | chr2:178800623;178800622;178800621 | chr2:179665350;179665349;179665348 |
| N2B | 119 | 580;581;582 | chr2:178800623;178800622;178800621 | chr2:179665350;179665349;179665348 |
| Novex-1 | 119 | 580;581;582 | chr2:178800623;178800622;178800621 | chr2:179665350;179665349;179665348 |
| Novex-2 | 119 | 580;581;582 | chr2:178800623;178800622;178800621 | chr2:179665350;179665349;179665348 |
| Novex-3 | 119 | 580;581;582 | chr2:178800623;178800622;178800621 | chr2:179665350;179665349;179665348 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/T | rs371981798  |
-0.798 | 0.395 | N | 0.492 | 0.211 | None | gnomAD-2.1.1 | 4E-06 | None | None | None | -0.443(TCAP) | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs371981798 |
-0.798 | 0.395 | N | 0.492 | 0.211 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.443(TCAP) | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs371981798 |
-0.798 | 0.395 | N | 0.492 | 0.211 | None | gnomAD-4.0.0 | 2.48068E-06 | None | None | None | -0.443(TCAP) | N | None | 2.67023E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48171E-07 | 0 | 1.60143E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2362 | likely_benign | 0.2685 | benign | -0.52 | Destabilizing | 0.053 | N | 0.457 | neutral | None | None | None | -0.109(TCAP) | N |
| S/C | 0.504 | ambiguous | 0.5822 | pathogenic | -0.407 | Destabilizing | 0.996 | D | 0.478 | neutral | D | 0.598868621 | None | -0.197(TCAP) | N |
| S/D | 0.8551 | likely_pathogenic | 0.8844 | pathogenic | 0.141 | Stabilizing | 0.784 | D | 0.505 | neutral | None | None | None | -0.186(TCAP) | N |
| S/E | 0.8726 | likely_pathogenic | 0.8912 | pathogenic | 0.097 | Stabilizing | 0.836 | D | 0.49 | neutral | None | None | None | -0.271(TCAP) | N |
| S/F | 0.7926 | likely_pathogenic | 0.8431 | pathogenic | -0.821 | Destabilizing | 0.997 | D | 0.481 | neutral | None | None | None | -0.042(TCAP) | N |
| S/G | 0.3503 | ambiguous | 0.4062 | ambiguous | -0.718 | Destabilizing | 0.016 | N | 0.255 | neutral | N | 0.514280048 | None | -0.095(TCAP) | N |
| S/H | 0.8037 | likely_pathogenic | 0.8298 | pathogenic | -1.193 | Destabilizing | 0.999 | D | 0.453 | neutral | None | None | None | 0.574(TCAP) | N |
| S/I | 0.8193 | likely_pathogenic | 0.8575 | pathogenic | -0.116 | Destabilizing | 0.996 | D | 0.479 | neutral | D | 0.678555352 | None | -0.193(TCAP) | N |
| S/K | 0.9713 | likely_pathogenic | 0.9755 | pathogenic | -0.583 | Destabilizing | 0.154 | N | 0.369 | neutral | None | None | None | -0.369(TCAP) | N |
| S/L | 0.5352 | ambiguous | 0.5982 | pathogenic | -0.116 | Destabilizing | 0.99 | D | 0.464 | neutral | None | None | None | -0.193(TCAP) | N |
| S/M | 0.6245 | likely_pathogenic | 0.6706 | pathogenic | 0.095 | Stabilizing | 0.999 | D | 0.455 | neutral | None | None | None | 0.094(TCAP) | N |
| S/N | 0.5321 | ambiguous | 0.601 | pathogenic | -0.41 | Destabilizing | 0.243 | N | 0.526 | neutral | N | 0.521622817 | None | -0.558(TCAP) | N |
| S/P | 0.9913 | likely_pathogenic | 0.9935 | pathogenic | -0.218 | Destabilizing | 0.987 | D | 0.445 | neutral | None | None | None | -0.157(TCAP) | N |
| S/Q | 0.818 | likely_pathogenic | 0.8393 | pathogenic | -0.608 | Destabilizing | 0.979 | D | 0.473 | neutral | None | None | None | -0.475(TCAP) | N |
| S/R | 0.9529 | likely_pathogenic | 0.961 | pathogenic | -0.436 | Destabilizing | 0.947 | D | 0.443 | neutral | D | 0.523134394 | None | -0.305(TCAP) | N |
| S/T | 0.2879 | likely_benign | 0.3286 | benign | -0.501 | Destabilizing | 0.395 | N | 0.492 | neutral | N | 0.516874392 | None | -0.443(TCAP) | N |
| S/V | 0.7364 | likely_pathogenic | 0.7914 | pathogenic | -0.218 | Destabilizing | 0.973 | D | 0.451 | neutral | None | None | None | -0.157(TCAP) | N |
| S/W | 0.8598 | likely_pathogenic | 0.8919 | pathogenic | -0.786 | Destabilizing | 0.999 | D | 0.553 | neutral | None | None | None | 0.039(TCAP) | N |
| S/Y | 0.691 | likely_pathogenic | 0.7494 | pathogenic | -0.526 | Destabilizing | 0.997 | D | 0.483 | neutral | None | None | None | 0.191(TCAP) | 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.