Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32525 | 97798;97799;97800 | chr2:178541504;178541503;178541502 | chr2:179406231;179406230;179406229 |
| N2AB | 30884 | 92875;92876;92877 | chr2:178541504;178541503;178541502 | chr2:179406231;179406230;179406229 |
| N2A | 29957 | 90094;90095;90096 | chr2:178541504;178541503;178541502 | chr2:179406231;179406230;179406229 |
| N2B | 23460 | 70603;70604;70605 | chr2:178541504;178541503;178541502 | chr2:179406231;179406230;179406229 |
| Novex-1 | 23585 | 70978;70979;70980 | chr2:178541504;178541503;178541502 | chr2:179406231;179406230;179406229 |
| Novex-2 | 23652 | 71179;71180;71181 | chr2:178541504;178541503;178541502 | chr2:179406231;179406230;179406229 |
| 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/E | rs1473354201  |
-0.113 | 0.002 | N | 0.169 | 0.057 | 0.139678290688 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| D/E | rs1473354201 |
-0.113 | 0.002 | N | 0.169 | 0.057 | 0.139678290688 | gnomAD-4.0.0 | 1.36883E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7993E-06 | 0 | 0 |
| D/V | rs750281394 |
0.326 | 0.781 | N | 0.716 | 0.35 | 0.599912457102 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| D/V | rs750281394 |
0.326 | 0.781 | N | 0.716 | 0.35 | 0.599912457102 | gnomAD-4.0.0 | 3.18474E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86862E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1603 | likely_benign | 0.1512 | benign | -0.207 | Destabilizing | 0.334 | N | 0.51 | neutral | N | 0.509301958 | None | None | I |
| D/C | 0.5144 | ambiguous | 0.4907 | ambiguous | 0.182 | Stabilizing | 0.982 | D | 0.711 | prob.delet. | None | None | None | None | I |
| D/E | 0.1123 | likely_benign | 0.1064 | benign | -0.318 | Destabilizing | 0.002 | N | 0.169 | neutral | N | 0.457238342 | None | None | I |
| D/F | 0.4311 | ambiguous | 0.4064 | ambiguous | -0.335 | Destabilizing | 0.982 | D | 0.685 | prob.neutral | None | None | None | None | I |
| D/G | 0.1764 | likely_benign | 0.1852 | benign | -0.395 | Destabilizing | 0.201 | N | 0.481 | neutral | D | 0.522039182 | None | None | I |
| D/H | 0.2396 | likely_benign | 0.2276 | benign | -0.35 | Destabilizing | 0.869 | D | 0.537 | neutral | N | 0.502375986 | None | None | I |
| D/I | 0.2682 | likely_benign | 0.2391 | benign | 0.232 | Stabilizing | 0.826 | D | 0.725 | prob.delet. | None | None | None | None | I |
| D/K | 0.2807 | likely_benign | 0.2843 | benign | 0.298 | Stabilizing | 0.25 | N | 0.495 | neutral | None | None | None | None | I |
| D/L | 0.3151 | likely_benign | 0.2994 | benign | 0.232 | Stabilizing | 0.7 | D | 0.718 | prob.delet. | None | None | None | None | I |
| D/M | 0.4548 | ambiguous | 0.4012 | ambiguous | 0.443 | Stabilizing | 0.982 | D | 0.693 | prob.neutral | None | None | None | None | I |
| D/N | 0.0962 | likely_benign | 0.0896 | benign | 0.138 | Stabilizing | 0.004 | N | 0.237 | neutral | N | 0.463356238 | None | None | I |
| D/P | 0.8233 | likely_pathogenic | 0.8404 | pathogenic | 0.108 | Stabilizing | 0.826 | D | 0.549 | neutral | None | None | None | None | I |
| D/Q | 0.2686 | likely_benign | 0.2559 | benign | 0.155 | Stabilizing | 0.539 | D | 0.489 | neutral | None | None | None | None | I |
| D/R | 0.3259 | likely_benign | 0.3271 | benign | 0.341 | Stabilizing | 0.7 | D | 0.658 | neutral | None | None | None | None | I |
| D/S | 0.1273 | likely_benign | 0.1138 | benign | 0.024 | Stabilizing | 0.25 | N | 0.399 | neutral | None | None | None | None | I |
| D/T | 0.1948 | likely_benign | 0.1696 | benign | 0.162 | Stabilizing | 0.539 | D | 0.491 | neutral | None | None | None | None | I |
| D/V | 0.1598 | likely_benign | 0.1465 | benign | 0.108 | Stabilizing | 0.781 | D | 0.716 | prob.delet. | N | 0.464416571 | None | None | I |
| D/W | 0.7694 | likely_pathogenic | 0.77 | pathogenic | -0.279 | Destabilizing | 0.982 | D | 0.708 | prob.delet. | None | None | None | None | I |
| D/Y | 0.1564 | likely_benign | 0.1576 | benign | -0.121 | Destabilizing | 0.976 | D | 0.687 | prob.neutral | N | 0.459009211 | None | None | I |
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.