Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27614 | 83065;83066;83067 | chr2:178563292;178563291;178563290 | chr2:179428019;179428018;179428017 |
| N2AB | 25973 | 78142;78143;78144 | chr2:178563292;178563291;178563290 | chr2:179428019;179428018;179428017 |
| N2A | 25046 | 75361;75362;75363 | chr2:178563292;178563291;178563290 | chr2:179428019;179428018;179428017 |
| N2B | 18549 | 55870;55871;55872 | chr2:178563292;178563291;178563290 | chr2:179428019;179428018;179428017 |
| Novex-1 | 18674 | 56245;56246;56247 | chr2:178563292;178563291;178563290 | chr2:179428019;179428018;179428017 |
| Novex-2 | 18741 | 56446;56447;56448 | chr2:178563292;178563291;178563290 | chr2:179428019;179428018;179428017 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | rs762964203  |
-0.816 | 0.016 | N | 0.231 | 0.133 | 0.178374595973 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/E | rs762964203 |
-0.816 | 0.016 | N | 0.231 | 0.133 | 0.178374595973 | gnomAD-4.0.0 | 6.84268E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99525E-07 | 0 | 0 |
| A/V | rs762964203 |
-0.112 | 0.845 | N | 0.267 | 0.079 | 0.233150807113 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| A/V | rs762964203 |
-0.112 | 0.845 | N | 0.267 | 0.079 | 0.233150807113 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs762964203 |
-0.112 | 0.845 | N | 0.267 | 0.079 | 0.233150807113 | gnomAD-4.0.0 | 4.95829E-06 | None | None | None | None | N | None | 1.33551E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08608E-06 | 1.09791E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3069 | likely_benign | 0.3156 | benign | -0.524 | Destabilizing | 0.981 | D | 0.309 | neutral | None | None | None | None | N |
| A/D | 0.1589 | likely_benign | 0.1288 | benign | -0.846 | Destabilizing | 0.001 | N | 0.161 | neutral | None | None | None | None | N |
| A/E | 0.1499 | likely_benign | 0.1383 | benign | -1.018 | Destabilizing | 0.016 | N | 0.231 | neutral | N | 0.407190737 | None | None | N |
| A/F | 0.2596 | likely_benign | 0.2676 | benign | -1.029 | Destabilizing | 0.932 | D | 0.375 | neutral | None | None | None | None | N |
| A/G | 0.0964 | likely_benign | 0.091 | benign | -0.332 | Destabilizing | 0.334 | N | 0.307 | neutral | N | 0.442746105 | None | None | N |
| A/H | 0.3369 | likely_benign | 0.3175 | benign | -0.471 | Destabilizing | 0.818 | D | 0.369 | neutral | None | None | None | None | N |
| A/I | 0.1617 | likely_benign | 0.1755 | benign | -0.369 | Destabilizing | 0.818 | D | 0.323 | neutral | None | None | None | None | N |
| A/K | 0.2639 | likely_benign | 0.2369 | benign | -0.69 | Destabilizing | 0.388 | N | 0.294 | neutral | None | None | None | None | N |
| A/L | 0.1142 | likely_benign | 0.1263 | benign | -0.369 | Destabilizing | 0.388 | N | 0.315 | neutral | None | None | None | None | N |
| A/M | 0.1421 | likely_benign | 0.1522 | benign | -0.252 | Destabilizing | 0.981 | D | 0.302 | neutral | None | None | None | None | N |
| A/N | 0.1475 | likely_benign | 0.1426 | benign | -0.223 | Destabilizing | 0.241 | N | 0.328 | neutral | None | None | None | None | N |
| A/P | 0.3827 | ambiguous | 0.3144 | benign | -0.31 | Destabilizing | 0.001 | N | 0.259 | neutral | N | 0.468721985 | None | None | N |
| A/Q | 0.2202 | likely_benign | 0.2089 | benign | -0.577 | Destabilizing | 0.69 | D | 0.316 | neutral | None | None | None | None | N |
| A/R | 0.2751 | likely_benign | 0.2301 | benign | -0.153 | Destabilizing | 0.69 | D | 0.325 | neutral | None | None | None | None | N |
| A/S | 0.0744 | likely_benign | 0.0741 | benign | -0.338 | Destabilizing | 0.018 | N | 0.205 | neutral | N | 0.373134091 | None | None | N |
| A/T | 0.0659 | likely_benign | 0.0691 | benign | -0.449 | Destabilizing | 0.193 | N | 0.288 | neutral | N | 0.399438045 | None | None | N |
| A/V | 0.0876 | likely_benign | 0.0944 | benign | -0.31 | Destabilizing | 0.845 | D | 0.267 | neutral | N | 0.465913753 | None | None | N |
| A/W | 0.5757 | likely_pathogenic | 0.5275 | ambiguous | -1.174 | Destabilizing | 0.981 | D | 0.503 | neutral | None | None | None | None | N |
| A/Y | 0.3646 | ambiguous | 0.3499 | ambiguous | -0.826 | Destabilizing | 0.932 | D | 0.373 | 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.