Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9646 | 29161;29162;29163 | chr2:178707631;178707630;178707629 | chr2:179572358;179572357;179572356 |
| N2AB | 9329 | 28210;28211;28212 | chr2:178707631;178707630;178707629 | chr2:179572358;179572357;179572356 |
| N2A | 8402 | 25429;25430;25431 | chr2:178707631;178707630;178707629 | chr2:179572358;179572357;179572356 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs765109515  |
-0.319 | None | None | 0.181 | 0.117 | 0.402471007487 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs765109515 |
-0.319 | None | None | 0.181 | 0.117 | 0.402471007487 | gnomAD-4.0.0 | 3.1824E-06 | None | None | None | None | N | None | 5.65227E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85789E-06 | 0 | 0 |
| V/L | rs765109515 |
-0.322 | None | None | 0.151 | 0.143 | 0.336892272479 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.43E-05 | 0 |
| V/L | rs765109515 |
-0.322 | None | None | 0.151 | 0.143 | 0.336892272479 | gnomAD-4.0.0 | 1.75032E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88324E-05 | 0 | 2.85789E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1265 | likely_benign | 0.1156 | benign | -1.868 | Destabilizing | None | N | 0.171 | neutral | None | None | None | None | N |
| V/C | 0.6486 | likely_pathogenic | 0.6221 | pathogenic | -1.602 | Destabilizing | None | N | 0.389 | neutral | None | None | None | None | N |
| V/D | 0.3057 | likely_benign | 0.2696 | benign | -2.429 | Highly Destabilizing | 0.072 | N | 0.659 | neutral | None | None | None | None | N |
| V/E | 0.2101 | likely_benign | 0.1963 | benign | -2.282 | Highly Destabilizing | 0.055 | N | 0.643 | neutral | None | None | None | None | N |
| V/F | 0.1046 | likely_benign | 0.1022 | benign | -1.225 | Destabilizing | 0.072 | N | 0.665 | neutral | None | None | None | None | N |
| V/G | 0.1953 | likely_benign | 0.1573 | benign | -2.332 | Highly Destabilizing | 0.012 | N | 0.607 | neutral | None | None | None | None | N |
| V/H | 0.3464 | ambiguous | 0.3407 | ambiguous | -2.022 | Highly Destabilizing | 0.001 | N | 0.605 | neutral | None | None | None | None | N |
| V/I | 0.0693 | likely_benign | 0.0734 | benign | -0.613 | Destabilizing | None | N | 0.181 | neutral | None | None | None | None | N |
| V/K | 0.2078 | likely_benign | 0.1944 | benign | -1.474 | Destabilizing | 0.072 | N | 0.631 | neutral | None | None | None | None | N |
| V/L | 0.1102 | likely_benign | 0.1091 | benign | -0.613 | Destabilizing | None | N | 0.151 | neutral | None | None | None | None | N |
| V/M | 0.0916 | likely_benign | 0.0924 | benign | -0.74 | Destabilizing | 0.002 | N | 0.345 | neutral | None | None | None | None | N |
| V/N | 0.1733 | likely_benign | 0.1676 | benign | -1.663 | Destabilizing | 0.072 | N | 0.665 | neutral | None | None | None | None | N |
| V/P | 0.9425 | likely_pathogenic | 0.8971 | pathogenic | -1.002 | Destabilizing | 0.136 | N | 0.681 | prob.neutral | None | None | None | None | N |
| V/Q | 0.1966 | likely_benign | 0.1843 | benign | -1.639 | Destabilizing | 0.214 | N | 0.699 | prob.neutral | None | None | None | None | N |
| V/R | 0.1894 | likely_benign | 0.1666 | benign | -1.193 | Destabilizing | 0.072 | N | 0.688 | prob.neutral | None | None | None | None | N |
| V/S | 0.1312 | likely_benign | 0.1217 | benign | -2.25 | Highly Destabilizing | 0.016 | N | 0.579 | neutral | None | None | None | None | N |
| V/T | 0.1132 | likely_benign | 0.1147 | benign | -1.973 | Destabilizing | None | N | 0.137 | neutral | None | None | None | None | N |
| V/W | 0.6793 | likely_pathogenic | 0.6289 | pathogenic | -1.658 | Destabilizing | 0.864 | D | 0.675 | neutral | None | None | None | None | N |
| V/Y | 0.3824 | ambiguous | 0.369 | ambiguous | -1.275 | Destabilizing | 0.072 | N | 0.675 | prob.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.