Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23126 | 69601;69602;69603 | chr2:178576959;178576958;178576957 | chr2:179441686;179441685;179441684 |
| N2AB | 21485 | 64678;64679;64680 | chr2:178576959;178576958;178576957 | chr2:179441686;179441685;179441684 |
| N2A | 20558 | 61897;61898;61899 | chr2:178576959;178576958;178576957 | chr2:179441686;179441685;179441684 |
| N2B | 14061 | 42406;42407;42408 | chr2:178576959;178576958;178576957 | chr2:179441686;179441685;179441684 |
| Novex-1 | 14186 | 42781;42782;42783 | chr2:178576959;178576958;178576957 | chr2:179441686;179441685;179441684 |
| Novex-2 | 14253 | 42982;42983;42984 | chr2:178576959;178576958;178576957 | chr2:179441686;179441685;179441684 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs756671149  |
-0.557 | 0.309 | N | 0.477 | 0.055 | 0.188950314367 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs756671149 |
-0.557 | 0.309 | N | 0.477 | 0.055 | 0.188950314367 | gnomAD-4.0.0 | 6.84363E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51991E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs756671149 |
-0.56 | 0.003 | N | 0.232 | 0.089 | 0.0954503805726 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/L | rs756671149 |
-0.56 | 0.003 | N | 0.232 | 0.089 | 0.0954503805726 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 3.27439E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.79386E-04 |
| V/L | rs756671149 |
-0.56 | 0.003 | N | 0.232 | 0.089 | 0.0954503805726 | gnomAD-4.0.0 | 9.91761E-06 | None | None | None | None | N | None | 0 | 1.50035E-04 | None | 0 | 0 | None | 0 | 0 | 4.23899E-06 | 0 | 3.20359E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1375 | likely_benign | 0.1251 | benign | -1.747 | Destabilizing | 0.309 | N | 0.326 | neutral | N | 0.447922638 | None | None | N |
| V/C | 0.524 | ambiguous | 0.4642 | ambiguous | -1.158 | Destabilizing | 0.996 | D | 0.551 | neutral | None | None | None | None | N |
| V/D | 0.5086 | ambiguous | 0.4532 | ambiguous | -1.766 | Destabilizing | 0.742 | D | 0.602 | neutral | None | None | None | None | N |
| V/E | 0.3575 | ambiguous | 0.3208 | benign | -1.716 | Destabilizing | 0.684 | D | 0.535 | neutral | N | 0.461512828 | None | None | N |
| V/F | 0.2188 | likely_benign | 0.1839 | benign | -1.171 | Destabilizing | 0.91 | D | 0.557 | neutral | None | None | None | None | N |
| V/G | 0.2088 | likely_benign | 0.1917 | benign | -2.116 | Highly Destabilizing | 0.521 | D | 0.557 | neutral | N | 0.461005849 | None | None | N |
| V/H | 0.5681 | likely_pathogenic | 0.5088 | ambiguous | -1.714 | Destabilizing | 0.996 | D | 0.617 | neutral | None | None | None | None | N |
| V/I | 0.0802 | likely_benign | 0.0755 | benign | -0.798 | Destabilizing | 0.309 | N | 0.477 | neutral | N | 0.45615812 | None | None | N |
| V/K | 0.41 | ambiguous | 0.3693 | ambiguous | -1.508 | Destabilizing | 0.742 | D | 0.529 | neutral | None | None | None | None | N |
| V/L | 0.1486 | likely_benign | 0.1284 | benign | -0.798 | Destabilizing | 0.003 | N | 0.232 | neutral | N | 0.336754791 | None | None | N |
| V/M | 0.1315 | likely_benign | 0.1169 | benign | -0.671 | Destabilizing | 0.91 | D | 0.62 | neutral | None | None | None | None | N |
| V/N | 0.3427 | ambiguous | 0.288 | benign | -1.347 | Destabilizing | 0.91 | D | 0.611 | neutral | None | None | None | None | N |
| V/P | 0.9188 | likely_pathogenic | 0.8982 | pathogenic | -1.082 | Destabilizing | 0.953 | D | 0.583 | neutral | None | None | None | None | N |
| V/Q | 0.2975 | likely_benign | 0.27 | benign | -1.458 | Destabilizing | 0.953 | D | 0.576 | neutral | None | None | None | None | N |
| V/R | 0.3414 | ambiguous | 0.3068 | benign | -1.051 | Destabilizing | 0.91 | D | 0.607 | neutral | None | None | None | None | N |
| V/S | 0.1698 | likely_benign | 0.1614 | benign | -1.887 | Destabilizing | 0.016 | N | 0.396 | neutral | None | None | None | None | N |
| V/T | 0.144 | likely_benign | 0.1317 | benign | -1.732 | Destabilizing | 0.037 | N | 0.226 | neutral | None | None | None | None | N |
| V/W | 0.8451 | likely_pathogenic | 0.7962 | pathogenic | -1.442 | Destabilizing | 0.996 | D | 0.647 | neutral | None | None | None | None | N |
| V/Y | 0.5884 | likely_pathogenic | 0.5143 | ambiguous | -1.158 | Destabilizing | 0.953 | D | 0.561 | 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.