Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33318 | 100177;100178;100179 | chr2:178537157;178537156;178537155 | chr2:179401884;179401883;179401882 |
| N2AB | 31677 | 95254;95255;95256 | chr2:178537157;178537156;178537155 | chr2:179401884;179401883;179401882 |
| N2A | 30750 | 92473;92474;92475 | chr2:178537157;178537156;178537155 | chr2:179401884;179401883;179401882 |
| N2B | 24253 | 72982;72983;72984 | chr2:178537157;178537156;178537155 | chr2:179401884;179401883;179401882 |
| Novex-1 | 24378 | 73357;73358;73359 | chr2:178537157;178537156;178537155 | chr2:179401884;179401883;179401882 |
| Novex-2 | 24445 | 73558;73559;73560 | chr2:178537157;178537156;178537155 | chr2:179401884;179401883;179401882 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs750273902  |
-0.967 | 1.0 | N | 0.711 | 0.451 | 0.479970216628 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| D/H | rs750273902 |
-0.967 | 1.0 | N | 0.711 | 0.451 | 0.479970216628 | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85865E-06 | 0 | 0 |
| D/N | None | None | 0.999 | D | 0.72 | 0.418 | 0.391156786388 | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02517E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8922 | likely_pathogenic | 0.6452 | pathogenic | 0.002 | Stabilizing | 0.996 | D | 0.611 | neutral | N | 0.494209981 | None | None | N |
| D/C | 0.9857 | likely_pathogenic | 0.9367 | pathogenic | 0.19 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/E | 0.8912 | likely_pathogenic | 0.7811 | pathogenic | -0.722 | Destabilizing | 0.999 | D | 0.451 | neutral | N | 0.499779388 | None | None | N |
| D/F | 0.9895 | likely_pathogenic | 0.9584 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/G | 0.8788 | likely_pathogenic | 0.6638 | pathogenic | -0.261 | Destabilizing | 0.998 | D | 0.581 | neutral | D | 0.543295733 | None | None | N |
| D/H | 0.9426 | likely_pathogenic | 0.8189 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.510441358 | None | None | N |
| D/I | 0.9778 | likely_pathogenic | 0.9177 | pathogenic | 0.651 | Stabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| D/K | 0.9755 | likely_pathogenic | 0.8998 | pathogenic | -0.024 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| D/L | 0.9727 | likely_pathogenic | 0.9011 | pathogenic | 0.651 | Stabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| D/M | 0.9918 | likely_pathogenic | 0.9668 | pathogenic | 1.082 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| D/N | 0.3402 | ambiguous | 0.1909 | benign | -0.248 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | D | 0.525196917 | None | None | N |
| D/P | 0.9824 | likely_pathogenic | 0.9505 | pathogenic | 0.461 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| D/Q | 0.9722 | likely_pathogenic | 0.9109 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/R | 0.9762 | likely_pathogenic | 0.9056 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/S | 0.6787 | likely_pathogenic | 0.3901 | ambiguous | -0.387 | Destabilizing | 0.994 | D | 0.531 | neutral | None | None | None | None | N |
| D/T | 0.868 | likely_pathogenic | 0.6829 | pathogenic | -0.181 | Destabilizing | 0.91 | D | 0.331 | neutral | None | None | None | None | N |
| D/V | 0.9419 | likely_pathogenic | 0.8208 | pathogenic | 0.461 | Stabilizing | 0.999 | D | 0.694 | prob.neutral | D | 0.523924031 | None | None | N |
| D/W | 0.998 | likely_pathogenic | 0.9932 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| D/Y | 0.9155 | likely_pathogenic | 0.7322 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | D | 0.543295733 | 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.