Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6186 | 18781;18782;18783 | chr2:178729697;178729696;178729695 | chr2:179594424;179594423;179594422 |
| N2AB | 5869 | 17830;17831;17832 | chr2:178729697;178729696;178729695 | chr2:179594424;179594423;179594422 |
| N2A | 4942 | 15049;15050;15051 | chr2:178729697;178729696;178729695 | chr2:179594424;179594423;179594422 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.099 | N | 0.209 | 0.118 | 0.293147016451 | gnomAD-4.0.0 | 1.59141E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85868E-06 | 0 | 0 |
| T/K | None | None | 0.608 | N | 0.428 | 0.26 | 0.404870348458 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | None | None | 0.608 | N | 0.428 | 0.26 | 0.404870348458 | gnomAD-4.0.0 | 6.5735E-06 | None | None | None | None | N | None | 2.41289E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | rs200359082  |
0.08 | 0.993 | N | 0.476 | 0.272 | None | gnomAD-2.1.1 | 1.14439E-04 | None | None | None | None | N | None | 1.6544E-04 | 2.83E-05 | None | 0 | 5.12E-05 | None | 3.27E-05 | None | 7.19367E-04 | 5.49E-05 | 0 |
| T/M | rs200359082 |
0.08 | 0.993 | N | 0.476 | 0.272 | None | gnomAD-3.1.2 | 9.2E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 1.92827E-04 | None | 6.59134E-04 | 0 | 2.94E-05 | 2.07125E-04 | 0 |
| T/M | rs200359082 |
0.08 | 0.993 | N | 0.476 | 0.272 | None | gnomAD-4.0.0 | 8.98617E-05 | None | None | None | None | N | None | 1.0682E-04 | 1.66739E-05 | None | 0 | 6.68449E-04 | None | 6.24785E-04 | 1.64582E-04 | 4.57741E-05 | 9.88142E-05 | 3.20246E-05 |
| T/R | rs200359082 |
-0.055 | 0.916 | N | 0.441 | 0.236 | 0.540472623666 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/R | rs200359082 |
-0.055 | 0.916 | N | 0.441 | 0.236 | 0.540472623666 | gnomAD-4.0.0 | 6.84245E-07 | None | None | None | None | N | None | 0 | 2.23604E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0707 | likely_benign | 0.0729 | benign | -0.551 | Destabilizing | 0.099 | N | 0.209 | neutral | N | 0.485534956 | None | None | N |
| T/C | 0.3629 | ambiguous | 0.4175 | ambiguous | -0.321 | Destabilizing | 0.992 | D | 0.473 | neutral | None | None | None | None | N |
| T/D | 0.2181 | likely_benign | 0.2579 | benign | -0.075 | Destabilizing | 0.617 | D | 0.425 | neutral | None | None | None | None | N |
| T/E | 0.1794 | likely_benign | 0.1968 | benign | -0.145 | Destabilizing | 0.617 | D | 0.411 | neutral | None | None | None | None | N |
| T/F | 0.1323 | likely_benign | 0.155 | benign | -0.904 | Destabilizing | 0.92 | D | 0.579 | neutral | None | None | None | None | N |
| T/G | 0.1881 | likely_benign | 0.2109 | benign | -0.711 | Destabilizing | 0.25 | N | 0.521 | neutral | None | None | None | None | N |
| T/H | 0.1743 | likely_benign | 0.1855 | benign | -0.97 | Destabilizing | 0.92 | D | 0.553 | neutral | None | None | None | None | N |
| T/I | 0.1184 | likely_benign | 0.1262 | benign | -0.241 | Destabilizing | 0.92 | D | 0.44 | neutral | None | None | None | None | N |
| T/K | 0.1446 | likely_benign | 0.1446 | benign | -0.571 | Destabilizing | 0.608 | D | 0.428 | neutral | N | 0.418480458 | None | None | N |
| T/L | 0.0871 | likely_benign | 0.0928 | benign | -0.241 | Destabilizing | 0.617 | D | 0.398 | neutral | None | None | None | None | N |
| T/M | 0.0799 | likely_benign | 0.0837 | benign | 0.036 | Stabilizing | 0.993 | D | 0.476 | neutral | N | 0.489076694 | None | None | N |
| T/N | 0.0849 | likely_benign | 0.0902 | benign | -0.309 | Destabilizing | 0.447 | N | 0.332 | neutral | None | None | None | None | N |
| T/P | 0.2155 | likely_benign | 0.2246 | benign | -0.315 | Destabilizing | 0.712 | D | 0.435 | neutral | D | 0.523919986 | None | None | N |
| T/Q | 0.1616 | likely_benign | 0.1663 | benign | -0.59 | Destabilizing | 0.85 | D | 0.453 | neutral | None | None | None | None | N |
| T/R | 0.1164 | likely_benign | 0.1205 | benign | -0.21 | Destabilizing | 0.916 | D | 0.441 | neutral | N | 0.459484505 | None | None | N |
| T/S | 0.0765 | likely_benign | 0.0843 | benign | -0.544 | Destabilizing | 0.002 | N | 0.157 | neutral | N | 0.345774998 | None | None | N |
| T/V | 0.1123 | likely_benign | 0.1195 | benign | -0.315 | Destabilizing | 0.617 | D | 0.325 | neutral | None | None | None | None | N |
| T/W | 0.3641 | ambiguous | 0.4185 | ambiguous | -0.85 | Destabilizing | 0.992 | D | 0.59 | neutral | None | None | None | None | N |
| T/Y | 0.1624 | likely_benign | 0.1779 | benign | -0.614 | Destabilizing | 0.972 | D | 0.563 | 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.