Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30080 | 90463;90464;90465 | chr2:178552662;178552661;178552660 | chr2:179417389;179417388;179417387 |
| N2AB | 28439 | 85540;85541;85542 | chr2:178552662;178552661;178552660 | chr2:179417389;179417388;179417387 |
| N2A | 27512 | 82759;82760;82761 | chr2:178552662;178552661;178552660 | chr2:179417389;179417388;179417387 |
| N2B | 21015 | 63268;63269;63270 | chr2:178552662;178552661;178552660 | chr2:179417389;179417388;179417387 |
| Novex-1 | 21140 | 63643;63644;63645 | chr2:178552662;178552661;178552660 | chr2:179417389;179417388;179417387 |
| Novex-2 | 21207 | 63844;63845;63846 | chr2:178552662;178552661;178552660 | chr2:179417389;179417388;179417387 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs753375022  |
-0.812 | 1.0 | N | 0.669 | 0.346 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 7.8E-06 | 0 |
| A/T | rs753375022 |
-0.812 | 1.0 | N | 0.669 | 0.346 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/T | rs753375022 |
-0.812 | 1.0 | N | 0.669 | 0.346 | None | gnomAD-4.0.0 | 1.79684E-05 | None | None | None | None | N | None | 3.99712E-05 | 3.33267E-05 | None | 0 | 2.22975E-05 | None | 1.56196E-05 | 0 | 1.77987E-05 | 0 | 1.60046E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4155 | ambiguous | 0.39 | ambiguous | -0.915 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/D | 0.8162 | likely_pathogenic | 0.7457 | pathogenic | -1.284 | Destabilizing | 0.999 | D | 0.751 | deleterious | N | 0.471115295 | None | None | N |
| A/E | 0.7697 | likely_pathogenic | 0.6952 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/F | 0.5196 | ambiguous | 0.4559 | ambiguous | -0.913 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/G | 0.1846 | likely_benign | 0.1672 | benign | -1.191 | Destabilizing | 0.138 | N | 0.241 | neutral | N | 0.471368785 | None | None | N |
| A/H | 0.8151 | likely_pathogenic | 0.7632 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/I | 0.3104 | likely_benign | 0.2706 | benign | -0.218 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/K | 0.9049 | likely_pathogenic | 0.864 | pathogenic | -1.303 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| A/L | 0.3272 | likely_benign | 0.2881 | benign | -0.218 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| A/M | 0.3782 | ambiguous | 0.3253 | benign | -0.215 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/N | 0.7154 | likely_pathogenic | 0.6479 | pathogenic | -1.1 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| A/P | 0.8408 | likely_pathogenic | 0.7854 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.494841864 | None | None | N |
| A/Q | 0.7703 | likely_pathogenic | 0.7134 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/R | 0.8498 | likely_pathogenic | 0.7991 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| A/S | 0.1614 | likely_benign | 0.1467 | benign | -1.454 | Destabilizing | 0.997 | D | 0.448 | neutral | N | 0.518268158 | None | None | N |
| A/T | 0.1381 | likely_benign | 0.1227 | benign | -1.341 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.514843851 | None | None | N |
| A/V | 0.1451 | likely_benign | 0.1315 | benign | -0.4 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.395381807 | None | None | N |
| A/W | 0.9009 | likely_pathogenic | 0.8607 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| A/Y | 0.7157 | likely_pathogenic | 0.6518 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.763 | deleterious | 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.