Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32465 | 97618;97619;97620 | chr2:178542363;178542362;178542361 | chr2:179407090;179407089;179407088 |
| N2AB | 30824 | 92695;92696;92697 | chr2:178542363;178542362;178542361 | chr2:179407090;179407089;179407088 |
| N2A | 29897 | 89914;89915;89916 | chr2:178542363;178542362;178542361 | chr2:179407090;179407089;179407088 |
| N2B | 23400 | 70423;70424;70425 | chr2:178542363;178542362;178542361 | chr2:179407090;179407089;179407088 |
| Novex-1 | 23525 | 70798;70799;70800 | chr2:178542363;178542362;178542361 | chr2:179407090;179407089;179407088 |
| Novex-2 | 23592 | 70999;71000;71001 | chr2:178542363;178542362;178542361 | chr2:179407090;179407089;179407088 |
| 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 | rs753202914  |
-0.837 | 0.012 | N | 0.246 | 0.122 | 0.137902524267 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs753202914 |
-0.837 | 0.012 | N | 0.246 | 0.122 | 0.137902524267 | gnomAD-4.0.0 | 1.59167E-06 | None | None | None | None | N | None | 0 | 2.28686E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | None | None | None | N | 0.167 | 0.118 | 0.104622674875 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/S | None | None | 0.002 | N | 0.123 | 0.096 | 0.0482279557977 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0869 | likely_benign | 0.0785 | benign | -0.926 | Destabilizing | 0.012 | N | 0.246 | neutral | N | 0.469647265 | None | None | N |
| T/C | 0.3517 | ambiguous | 0.3024 | benign | -0.448 | Destabilizing | 0.864 | D | 0.37 | neutral | None | None | None | None | N |
| T/D | 0.4561 | ambiguous | 0.4188 | ambiguous | -0.08 | Destabilizing | 0.038 | N | 0.341 | neutral | None | None | None | None | N |
| T/E | 0.2954 | likely_benign | 0.2864 | benign | -0.108 | Destabilizing | 0.072 | N | 0.351 | neutral | None | None | None | None | N |
| T/F | 0.2506 | likely_benign | 0.1984 | benign | -1.198 | Destabilizing | 0.214 | N | 0.438 | neutral | None | None | None | None | N |
| T/G | 0.2489 | likely_benign | 0.2164 | benign | -1.139 | Destabilizing | 0.072 | N | 0.391 | neutral | None | None | None | None | N |
| T/H | 0.2481 | likely_benign | 0.2166 | benign | -1.406 | Destabilizing | 0.356 | N | 0.401 | neutral | None | None | None | None | N |
| T/I | 0.0885 | likely_benign | 0.0774 | benign | -0.459 | Destabilizing | None | N | 0.167 | neutral | N | 0.469996995 | None | None | N |
| T/K | 0.2069 | likely_benign | 0.2066 | benign | -0.638 | Destabilizing | 0.072 | N | 0.357 | neutral | None | None | None | None | N |
| T/L | 0.0773 | likely_benign | 0.0679 | benign | -0.459 | Destabilizing | 0.002 | N | 0.285 | neutral | None | None | None | None | N |
| T/M | 0.0763 | likely_benign | 0.0709 | benign | -0.03 | Destabilizing | 0.007 | N | 0.277 | neutral | None | None | None | None | N |
| T/N | 0.1222 | likely_benign | 0.1051 | benign | -0.509 | Destabilizing | 0.001 | N | 0.185 | neutral | N | 0.468842202 | None | None | N |
| T/P | 0.3299 | likely_benign | 0.275 | benign | -0.584 | Destabilizing | 0.295 | N | 0.406 | neutral | N | 0.48104325 | None | None | N |
| T/Q | 0.1954 | likely_benign | 0.1903 | benign | -0.732 | Destabilizing | 0.356 | N | 0.399 | neutral | None | None | None | None | N |
| T/R | 0.1965 | likely_benign | 0.1845 | benign | -0.341 | Destabilizing | 0.356 | N | 0.405 | neutral | None | None | None | None | N |
| T/S | 0.117 | likely_benign | 0.1038 | benign | -0.817 | Destabilizing | 0.002 | N | 0.123 | neutral | N | 0.500549189 | None | None | N |
| T/V | 0.0847 | likely_benign | 0.0744 | benign | -0.584 | Destabilizing | None | N | 0.063 | neutral | None | None | None | None | N |
| T/W | 0.5921 | likely_pathogenic | 0.5043 | ambiguous | -1.095 | Destabilizing | 0.864 | D | 0.42 | neutral | None | None | None | None | N |
| T/Y | 0.3091 | likely_benign | 0.2682 | benign | -0.87 | Destabilizing | 0.356 | N | 0.433 | 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.