Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4613 | 14062;14063;14064 | chr2:178739396;178739395;178739394 | chr2:179604123;179604122;179604121 |
| N2AB | 4296 | 13111;13112;13113 | chr2:178739396;178739395;178739394 | chr2:179604123;179604122;179604121 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4250 | 12973;12974;12975 | chr2:178739396;178739395;178739394 | chr2:179604123;179604122;179604121 |
| Novex-1 | 4375 | 13348;13349;13350 | chr2:178739396;178739395;178739394 | chr2:179604123;179604122;179604121 |
| Novex-2 | 4442 | 13549;13550;13551 | chr2:178739396;178739395;178739394 | chr2:179604123;179604122;179604121 |
| 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/A | rs755215227  |
-0.345 | 0.019 | N | 0.141 | 0.074 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs755215227 |
-0.345 | 0.019 | N | 0.141 | 0.074 | None | gnomAD-4.0.0 | 3.42092E-06 | None | None | None | None | I | None | 0 | 6.70871E-05 | None | 0 | 0 | None | 0 | 0 | 1.79888E-06 | 0 | 0 |
| V/E | None | None | None | N | 0.153 | 0.08 | None | gnomAD-4.0.0 | 2.05255E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69832E-06 | 0 | 0 |
| V/M | rs781337192 |
-0.285 | 0.007 | D | 0.129 | 0.143 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 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 | 0.0855 | likely_benign | 0.0957 | benign | -0.493 | Destabilizing | 0.019 | N | 0.141 | neutral | N | 0.506519442 | None | None | I |
| V/C | 0.4864 | ambiguous | 0.5347 | ambiguous | -0.68 | Destabilizing | 0.883 | D | 0.324 | neutral | None | None | None | None | I |
| V/D | 0.136 | likely_benign | 0.1881 | benign | -0.338 | Destabilizing | 0.124 | N | 0.373 | neutral | None | None | None | None | I |
| V/E | 0.0811 | likely_benign | 0.0897 | benign | -0.451 | Destabilizing | None | N | 0.153 | neutral | N | 0.470705775 | None | None | I |
| V/F | 0.116 | likely_benign | 0.1384 | benign | -0.712 | Destabilizing | 0.331 | N | 0.406 | neutral | None | None | None | None | I |
| V/G | 0.0928 | likely_benign | 0.101 | benign | -0.621 | Destabilizing | 0.001 | N | 0.23 | neutral | D | 0.547333286 | None | None | I |
| V/H | 0.2413 | likely_benign | 0.2808 | benign | -0.191 | Destabilizing | 0.667 | D | 0.349 | neutral | None | None | None | None | I |
| V/I | 0.0811 | likely_benign | 0.0896 | benign | -0.303 | Destabilizing | 0.055 | N | 0.254 | neutral | None | None | None | None | I |
| V/K | 0.0851 | likely_benign | 0.088 | benign | -0.481 | Destabilizing | 0.001 | N | 0.23 | neutral | None | None | None | None | I |
| V/L | 0.1078 | likely_benign | 0.108 | benign | -0.303 | Destabilizing | None | N | 0.093 | neutral | D | 0.572896346 | None | None | I |
| V/M | 0.0942 | likely_benign | 0.0753 | benign | -0.396 | Destabilizing | 0.007 | N | 0.129 | neutral | D | 0.532936461 | None | None | I |
| V/N | 0.1257 | likely_benign | 0.1516 | benign | -0.231 | Destabilizing | 0.22 | N | 0.421 | neutral | None | None | None | None | I |
| V/P | 0.3265 | likely_benign | 0.3586 | ambiguous | -0.332 | Destabilizing | 0.364 | N | 0.4 | neutral | None | None | None | None | I |
| V/Q | 0.1001 | likely_benign | 0.1015 | benign | -0.471 | Destabilizing | 0.011 | N | 0.213 | neutral | None | None | None | None | I |
| V/R | 0.0783 | likely_benign | 0.0771 | benign | 0.041 | Stabilizing | 0.124 | N | 0.401 | neutral | None | None | None | None | I |
| V/S | 0.0936 | likely_benign | 0.1115 | benign | -0.582 | Destabilizing | 0.055 | N | 0.28 | neutral | None | None | None | None | I |
| V/T | 0.0842 | likely_benign | 0.0887 | benign | -0.593 | Destabilizing | 0.001 | N | 0.15 | neutral | None | None | None | None | I |
| V/W | 0.4718 | ambiguous | 0.4595 | ambiguous | -0.786 | Destabilizing | 0.958 | D | 0.333 | neutral | None | None | None | None | I |
| V/Y | 0.3189 | likely_benign | 0.3708 | ambiguous | -0.494 | Destabilizing | 0.667 | D | 0.386 | 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.