Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20031 | 60316;60317;60318 | chr2:178591728;178591727;178591726 | chr2:179456455;179456454;179456453 |
| N2AB | 18390 | 55393;55394;55395 | chr2:178591728;178591727;178591726 | chr2:179456455;179456454;179456453 |
| N2A | 17463 | 52612;52613;52614 | chr2:178591728;178591727;178591726 | chr2:179456455;179456454;179456453 |
| N2B | 10966 | 33121;33122;33123 | chr2:178591728;178591727;178591726 | chr2:179456455;179456454;179456453 |
| Novex-1 | 11091 | 33496;33497;33498 | chr2:178591728;178591727;178591726 | chr2:179456455;179456454;179456453 |
| Novex-2 | 11158 | 33697;33698;33699 | chr2:178591728;178591727;178591726 | chr2:179456455;179456454;179456453 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs771797161  |
-0.347 | 0.005 | N | 0.113 | 0.059 | 0.128392430309 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/A | rs771797161 |
-0.347 | 0.005 | N | 0.113 | 0.059 | 0.128392430309 | gnomAD-4.0.0 | 4.79044E-06 | None | None | None | None | N | None | 2.99025E-05 | 2.23754E-05 | None | 0 | 0 | None | 0 | 0 | 2.69879E-06 | 0 | 3.31356E-05 |
| T/K | rs1172877818 |
-0.109 | None | N | 0.097 | 0.084 | 0.130388298395 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/K | rs1172877818 |
-0.109 | None | N | 0.097 | 0.084 | 0.130388298395 | gnomAD-4.0.0 | 1.59204E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85963E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0683 | likely_benign | 0.0717 | benign | -0.489 | Destabilizing | 0.005 | N | 0.113 | neutral | N | 0.464009599 | None | None | N |
| T/C | 0.3459 | ambiguous | 0.4018 | ambiguous | -0.452 | Destabilizing | 0.864 | D | 0.256 | neutral | None | None | None | None | N |
| T/D | 0.2296 | likely_benign | 0.2499 | benign | 0.32 | Stabilizing | 0.031 | N | 0.234 | neutral | None | None | None | None | N |
| T/E | 0.1517 | likely_benign | 0.1623 | benign | 0.277 | Stabilizing | 0.016 | N | 0.249 | neutral | None | None | None | None | N |
| T/F | 0.2576 | likely_benign | 0.2948 | benign | -0.885 | Destabilizing | 0.356 | N | 0.258 | neutral | None | None | None | None | N |
| T/G | 0.146 | likely_benign | 0.1567 | benign | -0.653 | Destabilizing | 0.016 | N | 0.213 | neutral | None | None | None | None | N |
| T/H | 0.1668 | likely_benign | 0.183 | benign | -0.814 | Destabilizing | 0.356 | N | 0.243 | neutral | None | None | None | None | N |
| T/I | 0.1431 | likely_benign | 0.165 | benign | -0.17 | Destabilizing | 0.106 | N | 0.309 | neutral | N | 0.516460004 | None | None | N |
| T/K | 0.0833 | likely_benign | 0.0813 | benign | -0.382 | Destabilizing | None | N | 0.097 | neutral | N | 0.424240489 | None | None | N |
| T/L | 0.0844 | likely_benign | 0.0928 | benign | -0.17 | Destabilizing | 0.031 | N | 0.221 | neutral | None | None | None | None | N |
| T/M | 0.0885 | likely_benign | 0.0953 | benign | -0.19 | Destabilizing | 0.628 | D | 0.261 | neutral | None | None | None | None | N |
| T/N | 0.0815 | likely_benign | 0.0898 | benign | -0.306 | Destabilizing | 0.038 | N | 0.124 | neutral | None | None | None | None | N |
| T/P | 0.0642 | likely_benign | 0.0639 | benign | -0.247 | Destabilizing | None | N | 0.087 | neutral | N | 0.427280794 | None | None | N |
| T/Q | 0.1132 | likely_benign | 0.1143 | benign | -0.445 | Destabilizing | 0.038 | N | 0.279 | neutral | None | None | None | None | N |
| T/R | 0.0957 | likely_benign | 0.0946 | benign | -0.125 | Destabilizing | 0.029 | N | 0.248 | neutral | N | 0.451040301 | None | None | N |
| T/S | 0.084 | likely_benign | 0.0922 | benign | -0.554 | Destabilizing | None | N | 0.074 | neutral | N | 0.402230421 | None | None | N |
| T/V | 0.1202 | likely_benign | 0.1369 | benign | -0.247 | Destabilizing | 0.031 | N | 0.135 | neutral | None | None | None | None | N |
| T/W | 0.4888 | ambiguous | 0.5288 | ambiguous | -0.889 | Destabilizing | 0.864 | D | 0.253 | neutral | None | None | None | None | N |
| T/Y | 0.2349 | likely_benign | 0.2645 | benign | -0.601 | Destabilizing | 0.628 | D | 0.259 | neutral | None | None | 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.