Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8115 | 24568;24569;24570 | chr2:178718857;178718856;178718855 | chr2:179583584;179583583;179583582 |
| N2AB | 7798 | 23617;23618;23619 | chr2:178718857;178718856;178718855 | chr2:179583584;179583583;179583582 |
| N2A | 6871 | 20836;20837;20838 | chr2:178718857;178718856;178718855 | chr2:179583584;179583583;179583582 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/I | None | None | 0.003 | N | 0.201 | 0.258 | 0.335910606209 | gnomAD-4.0.0 | 1.36847E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79898E-06 | 0 | 0 |
| S/N | rs397517506  |
0.161 | 0.001 | N | 0.115 | 0.073 | 0.0666544352282 | gnomAD-2.1.1 | 8.86E-05 | None | None | None | None | I | None | 0 | 2.32072E-04 | None | 3.98804E-04 | 0 | None | 3.27E-05 | None | 0 | 6.23E-05 | 3.32336E-04 |
| S/N | rs397517506 |
0.161 | 0.001 | N | 0.115 | 0.073 | 0.0666544352282 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | I | None | 0 | 1.30993E-04 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| S/N | rs397517506 |
0.161 | 0.001 | N | 0.115 | 0.073 | 0.0666544352282 | gnomAD-4.0.0 | 4.64801E-05 | None | None | None | None | I | None | 0 | 1.5004E-04 | None | 6.08108E-04 | 0 | None | 0 | 0 | 3.39057E-05 | 1.09796E-05 | 1.12086E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0816 | likely_benign | 0.0879 | benign | -0.207 | Destabilizing | 0.007 | N | 0.142 | neutral | None | None | None | None | I |
| S/C | 0.1713 | likely_benign | 0.1955 | benign | -0.505 | Destabilizing | 0.954 | D | 0.311 | neutral | N | 0.48179854 | None | None | I |
| S/D | 0.2881 | likely_benign | 0.3191 | benign | 0.167 | Stabilizing | 0.001 | N | 0.098 | neutral | None | None | None | None | I |
| S/E | 0.3682 | ambiguous | 0.4047 | ambiguous | 0.072 | Stabilizing | 0.209 | N | 0.187 | neutral | None | None | None | None | I |
| S/F | 0.1638 | likely_benign | 0.1906 | benign | -0.973 | Destabilizing | 0.818 | D | 0.404 | neutral | None | None | None | None | I |
| S/G | 0.0905 | likely_benign | 0.0966 | benign | -0.249 | Destabilizing | 0.08 | N | 0.174 | neutral | N | 0.429416157 | None | None | I |
| S/H | 0.3196 | likely_benign | 0.3524 | ambiguous | -0.47 | Destabilizing | 0.901 | D | 0.299 | neutral | None | None | None | None | I |
| S/I | 0.1438 | likely_benign | 0.1842 | benign | -0.229 | Destabilizing | 0.003 | N | 0.201 | neutral | N | 0.47053114 | None | None | I |
| S/K | 0.5151 | ambiguous | 0.5565 | ambiguous | -0.343 | Destabilizing | 0.345 | N | 0.176 | neutral | None | None | None | None | I |
| S/L | 0.0955 | likely_benign | 0.1095 | benign | -0.229 | Destabilizing | 0.209 | N | 0.223 | neutral | None | None | None | None | I |
| S/M | 0.1893 | likely_benign | 0.216 | benign | -0.349 | Destabilizing | 0.818 | D | 0.299 | neutral | None | None | None | None | I |
| S/N | 0.1073 | likely_benign | 0.1242 | benign | -0.209 | Destabilizing | 0.001 | N | 0.115 | neutral | N | 0.479237262 | None | None | I |
| S/P | 0.1259 | likely_benign | 0.1499 | benign | -0.198 | Destabilizing | 0.722 | D | 0.355 | neutral | None | None | None | None | I |
| S/Q | 0.3987 | ambiguous | 0.4289 | ambiguous | -0.37 | Destabilizing | 0.722 | D | 0.249 | neutral | None | None | None | None | I |
| S/R | 0.4227 | ambiguous | 0.4781 | ambiguous | -0.095 | Destabilizing | 0.491 | N | 0.355 | neutral | N | 0.462426837 | None | None | I |
| S/T | 0.0905 | likely_benign | 0.1008 | benign | -0.309 | Destabilizing | None | N | 0.099 | neutral | N | 0.457653897 | None | None | I |
| S/V | 0.1664 | likely_benign | 0.1991 | benign | -0.198 | Destabilizing | 0.209 | N | 0.226 | neutral | None | None | None | None | I |
| S/W | 0.281 | likely_benign | 0.3099 | benign | -1.078 | Destabilizing | 0.991 | D | 0.358 | neutral | None | None | None | None | I |
| S/Y | 0.17 | likely_benign | 0.1857 | benign | -0.746 | Destabilizing | 0.965 | D | 0.389 | neutral | None | None | 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.