Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15819 | 47680;47681;47682 | chr2:178617896;178617895;178617894 | chr2:179482623;179482622;179482621 |
| N2AB | 14178 | 42757;42758;42759 | chr2:178617896;178617895;178617894 | chr2:179482623;179482622;179482621 |
| N2A | 13251 | 39976;39977;39978 | chr2:178617896;178617895;178617894 | chr2:179482623;179482622;179482621 |
| N2B | 6754 | 20485;20486;20487 | chr2:178617896;178617895;178617894 | chr2:179482623;179482622;179482621 |
| Novex-1 | 6879 | 20860;20861;20862 | chr2:178617896;178617895;178617894 | chr2:179482623;179482622;179482621 |
| Novex-2 | 6946 | 21061;21062;21063 | chr2:178617896;178617895;178617894 | chr2:179482623;179482622;179482621 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.454 | D | 0.379 | 0.179 | 0.212008924253 | gnomAD-4.0.0 | 1.36922E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79985E-06 | 0 | 0 |
| T/I | rs2057647583  |
None | 0.022 | N | 0.24 | 0.179 | 0.343101102393 | gnomAD-4.0.0 | 3.18695E-06 | None | None | None | None | N | None | 5.67859E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86297E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0843 | likely_benign | 0.0845 | benign | -0.461 | Destabilizing | 0.454 | N | 0.379 | neutral | D | 0.523116852 | None | None | N |
| T/C | 0.3813 | ambiguous | 0.3559 | ambiguous | -0.221 | Destabilizing | 0.998 | D | 0.524 | neutral | None | None | None | None | N |
| T/D | 0.4193 | ambiguous | 0.4222 | ambiguous | 0.159 | Stabilizing | 0.842 | D | 0.486 | neutral | None | None | None | None | N |
| T/E | 0.3092 | likely_benign | 0.3103 | benign | 0.079 | Stabilizing | 0.728 | D | 0.411 | neutral | None | None | None | None | N |
| T/F | 0.2145 | likely_benign | 0.221 | benign | -0.998 | Destabilizing | 0.974 | D | 0.591 | neutral | None | None | None | None | N |
| T/G | 0.2887 | likely_benign | 0.3008 | benign | -0.582 | Destabilizing | 0.915 | D | 0.521 | neutral | None | None | None | None | N |
| T/H | 0.2513 | likely_benign | 0.2384 | benign | -0.964 | Destabilizing | 0.993 | D | 0.571 | neutral | None | None | None | None | N |
| T/I | 0.1167 | likely_benign | 0.1272 | benign | -0.26 | Destabilizing | 0.022 | N | 0.24 | neutral | N | 0.491937731 | None | None | N |
| T/K | 0.2042 | likely_benign | 0.1943 | benign | -0.314 | Destabilizing | 0.728 | D | 0.464 | neutral | None | None | None | None | N |
| T/L | 0.0965 | likely_benign | 0.0973 | benign | -0.26 | Destabilizing | 0.525 | D | 0.358 | neutral | None | None | None | None | N |
| T/M | 0.0884 | likely_benign | 0.0899 | benign | 0.055 | Stabilizing | 0.974 | D | 0.539 | neutral | None | None | None | None | N |
| T/N | 0.1303 | likely_benign | 0.1344 | benign | -0.08 | Destabilizing | 0.966 | D | 0.465 | neutral | D | 0.522396132 | None | None | N |
| T/P | 0.2441 | likely_benign | 0.2842 | benign | -0.299 | Destabilizing | 0.989 | D | 0.564 | neutral | N | 0.513734266 | None | None | N |
| T/Q | 0.216 | likely_benign | 0.2089 | benign | -0.35 | Destabilizing | 0.325 | N | 0.3 | neutral | None | None | None | None | N |
| T/R | 0.1679 | likely_benign | 0.1597 | benign | -0.063 | Destabilizing | 0.949 | D | 0.567 | neutral | None | None | None | None | N |
| T/S | 0.1191 | likely_benign | 0.1188 | benign | -0.306 | Destabilizing | 0.801 | D | 0.385 | neutral | N | 0.505560433 | None | None | N |
| T/V | 0.0928 | likely_benign | 0.0956 | benign | -0.299 | Destabilizing | 0.007 | N | 0.175 | neutral | None | None | None | None | N |
| T/W | 0.5449 | ambiguous | 0.5494 | ambiguous | -0.972 | Destabilizing | 0.998 | D | 0.601 | neutral | None | None | None | None | N |
| T/Y | 0.2508 | likely_benign | 0.2403 | benign | -0.69 | Destabilizing | 0.991 | D | 0.583 | 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.