Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6005 | 18238;18239;18240 | chr2:178730520;178730519;178730518 | chr2:179595247;179595246;179595245 |
| N2AB | 5688 | 17287;17288;17289 | chr2:178730520;178730519;178730518 | chr2:179595247;179595246;179595245 |
| N2A | 4761 | 14506;14507;14508 | chr2:178730520;178730519;178730518 | chr2:179595247;179595246;179595245 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/D | None | None | 0.025 | N | 0.423 | 0.207 | 0.198526703765 | gnomAD-4.0.0 | 3.44502E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.52744E-06 | 0 | 0 |
| H/N | rs1241109741  |
-0.319 | 0.001 | N | 0.079 | 0.066 | 0.16115917748 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| H/N | rs1241109741 |
-0.319 | 0.001 | N | 0.079 | 0.066 | 0.16115917748 | gnomAD-4.0.0 | 5.51203E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.24391E-06 | 0 | 0 |
| H/Q | rs1213230929 |
-0.106 | 0.202 | N | 0.419 | 0.144 | 0.149567049428 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.38E-05 | None | 0 | 0 | 0 |
| H/Q | rs1213230929 |
-0.106 | 0.202 | N | 0.419 | 0.144 | 0.149567049428 | gnomAD-4.0.0 | 4.85572E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.77117E-05 | 0 | 0 | 1.45645E-05 | 0 |
| H/R | rs1560786611 |
None | 0.202 | N | 0.391 | 0.2 | 0.319402600006 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| H/R | rs1560786611 |
None | 0.202 | N | 0.391 | 0.2 | 0.319402600006 | gnomAD-4.0.0 | 3.23652E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.92189E-06 | 1.45688E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.1796 | likely_benign | 0.1969 | benign | -0.865 | Destabilizing | 0.029 | N | 0.32 | neutral | None | None | None | None | N |
| H/C | 0.1557 | likely_benign | 0.1553 | benign | -0.354 | Destabilizing | 0.781 | D | 0.547 | neutral | None | None | None | None | N |
| H/D | 0.1525 | likely_benign | 0.1776 | benign | -0.094 | Destabilizing | 0.025 | N | 0.423 | neutral | N | 0.446939282 | None | None | N |
| H/E | 0.1997 | likely_benign | 0.2149 | benign | -0.051 | Destabilizing | 0.064 | N | 0.333 | neutral | None | None | None | None | N |
| H/F | 0.1051 | likely_benign | 0.1147 | benign | -0.38 | Destabilizing | None | N | 0.169 | neutral | None | None | None | None | N |
| H/G | 0.2845 | likely_benign | 0.3126 | benign | -1.143 | Destabilizing | 0.064 | N | 0.377 | neutral | None | None | None | None | N |
| H/I | 0.1237 | likely_benign | 0.1312 | benign | -0.133 | Destabilizing | 0.001 | N | 0.324 | neutral | None | None | None | None | N |
| H/K | 0.1876 | likely_benign | 0.2015 | benign | -0.707 | Destabilizing | 0.064 | N | 0.422 | neutral | None | None | None | None | N |
| H/L | 0.0848 | likely_benign | 0.092 | benign | -0.133 | Destabilizing | 0.005 | N | 0.354 | neutral | N | 0.427006727 | None | None | N |
| H/M | 0.2621 | likely_benign | 0.279 | benign | -0.168 | Destabilizing | 0.54 | D | 0.566 | neutral | None | None | None | None | N |
| H/N | 0.0779 | likely_benign | 0.0882 | benign | -0.511 | Destabilizing | 0.001 | N | 0.079 | neutral | N | 0.438165084 | None | None | N |
| H/P | 0.2343 | likely_benign | 0.2582 | benign | -0.355 | Destabilizing | 0.435 | N | 0.566 | neutral | N | 0.446285922 | None | None | N |
| H/Q | 0.1158 | likely_benign | 0.1205 | benign | -0.46 | Destabilizing | 0.202 | N | 0.419 | neutral | N | 0.39910805 | None | None | N |
| H/R | 0.1043 | likely_benign | 0.1027 | benign | -0.764 | Destabilizing | 0.202 | N | 0.391 | neutral | N | 0.407804891 | None | None | N |
| H/S | 0.1301 | likely_benign | 0.1475 | benign | -0.798 | Destabilizing | 0.015 | N | 0.307 | neutral | None | None | None | None | N |
| H/T | 0.1379 | likely_benign | 0.1449 | benign | -0.663 | Destabilizing | None | N | 0.209 | neutral | None | None | None | None | N |
| H/V | 0.1168 | likely_benign | 0.1234 | benign | -0.355 | Destabilizing | 0.015 | N | 0.34 | neutral | None | None | None | None | N |
| H/W | 0.2675 | likely_benign | 0.2827 | benign | -0.157 | Destabilizing | 0.54 | D | 0.545 | neutral | None | None | None | None | N |
| H/Y | 0.0515 | likely_benign | 0.055 | benign | 0.155 | Stabilizing | None | N | 0.084 | neutral | N | 0.411269271 | 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.