Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19425 | 58498;58499;58500 | chr2:178594120;178594119;178594118 | chr2:179458847;179458846;179458845 |
| N2AB | 17784 | 53575;53576;53577 | chr2:178594120;178594119;178594118 | chr2:179458847;179458846;179458845 |
| N2A | 16857 | 50794;50795;50796 | chr2:178594120;178594119;178594118 | chr2:179458847;179458846;179458845 |
| N2B | 10360 | 31303;31304;31305 | chr2:178594120;178594119;178594118 | chr2:179458847;179458846;179458845 |
| Novex-1 | 10485 | 31678;31679;31680 | chr2:178594120;178594119;178594118 | chr2:179458847;179458846;179458845 |
| Novex-2 | 10552 | 31879;31880;31881 | chr2:178594120;178594119;178594118 | chr2:179458847;179458846;179458845 |
| 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/D | None | -0.195 | 0.029 | N | 0.424 | 0.137 | 0.260735089382 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| A/D | None | -0.195 | 0.029 | N | 0.424 | 0.137 | 0.260735089382 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/D | None | -0.195 | 0.029 | N | 0.424 | 0.137 | 0.260735089382 | gnomAD-4.0.0 | 7.43805E-06 | None | None | None | None | N | None | 0 | 1.66828E-05 | None | 0 | 0 | None | 0 | 1.64528E-04 | 6.78167E-06 | 0 | 3.20307E-05 |
| A/G | rs727504525  |
None | 0.024 | N | 0.301 | 0.081 | 0.191931220699 | gnomAD-4.0.0 | 8.21209E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52742E-05 | None | 0 | 0 | 9.89508E-06 | 0 | 0 |
| A/V | rs727504525 |
0.061 | None | N | 0.185 | 0.08 | 0.18995819373 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.46E-05 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs727504525 |
0.061 | None | N | 0.185 | 0.08 | 0.18995819373 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.9667E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs727504525 |
0.061 | None | N | 0.185 | 0.08 | 0.18995819373 | gnomAD-4.0.0 | 4.9587E-06 | None | None | None | None | N | None | 4.00481E-05 | 8.3414E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3013 | likely_benign | 0.281 | benign | -0.715 | Destabilizing | 0.356 | N | 0.356 | neutral | None | None | None | None | N |
| A/D | 0.1214 | likely_benign | 0.1109 | benign | -0.577 | Destabilizing | 0.029 | N | 0.424 | neutral | N | 0.466469193 | None | None | N |
| A/E | 0.1128 | likely_benign | 0.1043 | benign | -0.702 | Destabilizing | None | N | 0.183 | neutral | None | None | None | None | N |
| A/F | 0.2212 | likely_benign | 0.2012 | benign | -0.871 | Destabilizing | 0.214 | N | 0.514 | neutral | None | None | None | None | N |
| A/G | 0.1117 | likely_benign | 0.1052 | benign | -0.534 | Destabilizing | 0.024 | N | 0.301 | neutral | N | 0.462140808 | None | None | N |
| A/H | 0.2579 | likely_benign | 0.2357 | benign | -0.569 | Destabilizing | 0.628 | D | 0.442 | neutral | None | None | None | None | N |
| A/I | 0.1149 | likely_benign | 0.1135 | benign | -0.341 | Destabilizing | None | N | 0.185 | neutral | None | None | None | None | N |
| A/K | 0.1626 | likely_benign | 0.1484 | benign | -0.841 | Destabilizing | 0.072 | N | 0.416 | neutral | None | None | None | None | N |
| A/L | 0.1125 | likely_benign | 0.1106 | benign | -0.341 | Destabilizing | 0.002 | N | 0.297 | neutral | None | None | None | None | N |
| A/M | 0.1089 | likely_benign | 0.1091 | benign | -0.396 | Destabilizing | 0.002 | N | 0.281 | neutral | None | None | None | None | N |
| A/N | 0.1168 | likely_benign | 0.113 | benign | -0.492 | Destabilizing | 0.072 | N | 0.485 | neutral | None | None | None | None | N |
| A/P | 0.5148 | ambiguous | 0.4637 | ambiguous | -0.334 | Destabilizing | 0.106 | N | 0.44 | neutral | D | 0.529115162 | None | None | N |
| A/Q | 0.1709 | likely_benign | 0.1666 | benign | -0.739 | Destabilizing | 0.072 | N | 0.439 | neutral | None | None | None | None | N |
| A/R | 0.1845 | likely_benign | 0.1653 | benign | -0.369 | Destabilizing | 0.072 | N | 0.439 | neutral | None | None | None | None | N |
| A/S | 0.0807 | likely_benign | 0.0783 | benign | -0.712 | Destabilizing | 0.012 | N | 0.323 | neutral | N | 0.454190542 | None | None | N |
| A/T | 0.0586 | likely_benign | 0.0589 | benign | -0.755 | Destabilizing | None | N | 0.142 | neutral | N | 0.434876849 | None | None | N |
| A/V | 0.0729 | likely_benign | 0.0716 | benign | -0.334 | Destabilizing | None | N | 0.185 | neutral | N | 0.436205001 | None | None | N |
| A/W | 0.5235 | ambiguous | 0.4638 | ambiguous | -1.063 | Destabilizing | 0.864 | D | 0.459 | neutral | None | None | None | None | N |
| A/Y | 0.2883 | likely_benign | 0.2592 | benign | -0.714 | Destabilizing | 0.356 | N | 0.493 | 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.