Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7169 | 21730;21731;21732 | chr2:178723595;178723594;178723593 | chr2:179588322;179588321;179588320 |
| N2AB | 6852 | 20779;20780;20781 | chr2:178723595;178723594;178723593 | chr2:179588322;179588321;179588320 |
| N2A | 5925 | 17998;17999;18000 | chr2:178723595;178723594;178723593 | chr2:179588322;179588321;179588320 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | rs786205314  |
None | 0.003 | N | 0.487 | 0.145 | 0.414930877219 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/I | rs786205314 |
None | 0.003 | N | 0.487 | 0.145 | 0.414930877219 | gnomAD-4.0.0 | 6.5741E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4705E-05 | 0 | 0 |
| N/S | rs786205314 |
-0.686 | None | N | 0.143 | 0.122 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.55E-05 | None | 0 | 1.78E-05 | 0 |
| N/S | rs786205314 |
-0.686 | None | N | 0.143 | 0.122 | None | gnomAD-4.0.0 | 1.30043E-05 | None | None | None | None | N | None | 2.98989E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89606E-06 | 6.96056E-05 | 1.65777E-05 |
| N/T | None | -0.215 | None | N | 0.14 | 0.104 | 0.149567049428 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 1.29333E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/T | None | -0.215 | None | N | 0.14 | 0.104 | 0.149567049428 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/T | None | -0.215 | None | N | 0.14 | 0.104 | 0.149567049428 | gnomAD-4.0.0 | 8.05871E-06 | None | None | None | None | N | None | 5.34102E-05 | 0 | None | 0 | 1.785E-04 | None | 0 | 0 | 8.47775E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.0839 | likely_benign | 0.0939 | benign | -0.839 | Destabilizing | 0.001 | N | 0.377 | neutral | None | None | None | None | N |
| N/C | 0.108 | likely_benign | 0.1321 | benign | 0.035 | Stabilizing | 0.316 | N | 0.532 | neutral | None | None | None | None | N |
| N/D | 0.0903 | likely_benign | 0.0978 | benign | -0.365 | Destabilizing | 0.003 | N | 0.307 | neutral | N | 0.483206727 | None | None | N |
| N/E | 0.1572 | likely_benign | 0.1744 | benign | -0.236 | Destabilizing | 0.001 | N | 0.308 | neutral | None | None | None | None | N |
| N/F | 0.2451 | likely_benign | 0.2614 | benign | -0.475 | Destabilizing | 0.021 | N | 0.567 | neutral | None | None | None | None | N |
| N/G | 0.0698 | likely_benign | 0.092 | benign | -1.2 | Destabilizing | None | N | 0.125 | neutral | None | None | None | None | N |
| N/H | 0.0714 | likely_benign | 0.072 | benign | -0.834 | Destabilizing | 0.103 | N | 0.45 | neutral | N | 0.465487758 | None | None | N |
| N/I | 0.1035 | likely_benign | 0.1136 | benign | 0.094 | Stabilizing | 0.003 | N | 0.487 | neutral | N | 0.460639298 | None | None | N |
| N/K | 0.1061 | likely_benign | 0.1102 | benign | -0.267 | Destabilizing | None | N | 0.121 | neutral | N | 0.359781658 | None | None | N |
| N/L | 0.1164 | likely_benign | 0.1196 | benign | 0.094 | Stabilizing | None | N | 0.453 | neutral | None | None | None | None | N |
| N/M | 0.1781 | likely_benign | 0.1853 | benign | 0.35 | Stabilizing | 0.069 | N | 0.561 | neutral | None | None | None | None | N |
| N/P | 0.6921 | likely_pathogenic | 0.7145 | pathogenic | -0.188 | Destabilizing | 0.018 | N | 0.466 | neutral | None | None | None | None | N |
| N/Q | 0.1332 | likely_benign | 0.1391 | benign | -0.671 | Destabilizing | None | N | 0.158 | neutral | None | None | None | None | N |
| N/R | 0.1018 | likely_benign | 0.1084 | benign | -0.381 | Destabilizing | None | N | 0.141 | neutral | None | None | None | None | N |
| N/S | 0.0477 | likely_benign | 0.0531 | benign | -0.893 | Destabilizing | None | N | 0.143 | neutral | N | 0.355487772 | None | None | N |
| N/T | 0.0678 | likely_benign | 0.0692 | benign | -0.568 | Destabilizing | None | N | 0.14 | neutral | N | 0.395894387 | None | None | N |
| N/V | 0.1027 | likely_benign | 0.1138 | benign | -0.188 | Destabilizing | 0.002 | N | 0.422 | neutral | None | None | None | None | N |
| N/W | 0.3624 | ambiguous | 0.4103 | ambiguous | -0.281 | Destabilizing | 0.316 | N | 0.527 | neutral | None | None | None | None | N |
| N/Y | 0.0829 | likely_benign | 0.0884 | benign | -0.061 | Destabilizing | 0.032 | N | 0.54 | neutral | N | 0.44842215 | 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.