Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30604 | 92035;92036;92037 | chr2:178550028;178550027;178550026 | chr2:179414755;179414754;179414753 |
| N2AB | 28963 | 87112;87113;87114 | chr2:178550028;178550027;178550026 | chr2:179414755;179414754;179414753 |
| N2A | 28036 | 84331;84332;84333 | chr2:178550028;178550027;178550026 | chr2:179414755;179414754;179414753 |
| N2B | 21539 | 64840;64841;64842 | chr2:178550028;178550027;178550026 | chr2:179414755;179414754;179414753 |
| Novex-1 | 21664 | 65215;65216;65217 | chr2:178550028;178550027;178550026 | chr2:179414755;179414754;179414753 |
| Novex-2 | 21731 | 65416;65417;65418 | chr2:178550028;178550027;178550026 | chr2:179414755;179414754;179414753 |
| 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/P | rs1340152614  |
-0.042 | 0.106 | N | 0.325 | 0.131 | 0.317667799068 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs1340152614 |
-0.042 | 0.106 | N | 0.325 | 0.131 | 0.317667799068 | gnomAD-4.0.0 | 1.59744E-06 | None | None | None | None | I | None | 0 | 2.29169E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1186406232 |
None | None | N | 0.091 | 0.145 | 0.139678290688 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1186406232 |
None | None | N | 0.091 | 0.145 | 0.139678290688 | gnomAD-4.0.0 | 2.57073E-06 | None | None | None | None | I | None | 1.69359E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.85177E-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 | 0.3826 | ambiguous | 0.359 | ambiguous | -0.87 | Destabilizing | 0.356 | N | 0.275 | neutral | None | None | None | None | I |
| A/D | 0.3069 | likely_benign | 0.341 | ambiguous | -0.466 | Destabilizing | 0.038 | N | 0.348 | neutral | None | None | None | None | I |
| A/E | 0.3015 | likely_benign | 0.3286 | benign | -0.613 | Destabilizing | 0.055 | N | 0.276 | neutral | N | 0.408842254 | None | None | I |
| A/F | 0.2287 | likely_benign | 0.2623 | benign | -0.916 | Destabilizing | 0.214 | N | 0.381 | neutral | None | None | None | None | I |
| A/G | 0.1186 | likely_benign | 0.1256 | benign | -0.236 | Destabilizing | 0.012 | N | 0.271 | neutral | N | 0.43693572 | None | None | I |
| A/H | 0.4001 | ambiguous | 0.4257 | ambiguous | -0.213 | Destabilizing | 0.356 | N | 0.369 | neutral | None | None | None | None | I |
| A/I | 0.1002 | likely_benign | 0.124 | benign | -0.428 | Destabilizing | None | N | 0.21 | neutral | None | None | None | None | I |
| A/K | 0.4743 | ambiguous | 0.497 | ambiguous | -0.503 | Destabilizing | 0.072 | N | 0.3 | neutral | None | None | None | None | I |
| A/L | 0.1055 | likely_benign | 0.1183 | benign | -0.428 | Destabilizing | 0.006 | N | 0.35 | neutral | None | None | None | None | I |
| A/M | 0.1327 | likely_benign | 0.145 | benign | -0.571 | Destabilizing | 0.214 | N | 0.299 | neutral | None | None | None | None | I |
| A/N | 0.1573 | likely_benign | 0.1741 | benign | -0.236 | Destabilizing | 0.001 | N | 0.233 | neutral | None | None | None | None | I |
| A/P | 0.1356 | likely_benign | 0.1443 | benign | -0.341 | Destabilizing | 0.106 | N | 0.325 | neutral | N | 0.446901997 | None | None | I |
| A/Q | 0.3079 | likely_benign | 0.3155 | benign | -0.486 | Destabilizing | 0.356 | N | 0.325 | neutral | None | None | None | None | I |
| A/R | 0.4479 | ambiguous | 0.4634 | ambiguous | -0.091 | Destabilizing | 0.214 | N | 0.33 | neutral | None | None | None | None | I |
| A/S | 0.0803 | likely_benign | 0.0849 | benign | -0.434 | Destabilizing | None | N | 0.087 | neutral | N | 0.395854314 | None | None | I |
| A/T | 0.071 | likely_benign | 0.0758 | benign | -0.507 | Destabilizing | 0.012 | N | 0.251 | neutral | N | 0.46289017 | None | None | I |
| A/V | 0.0706 | likely_benign | 0.0789 | benign | -0.341 | Destabilizing | None | N | 0.091 | neutral | N | 0.447422072 | None | None | I |
| A/W | 0.6818 | likely_pathogenic | 0.7115 | pathogenic | -1.005 | Destabilizing | 0.864 | D | 0.394 | neutral | None | None | None | None | I |
| A/Y | 0.3824 | ambiguous | 0.4077 | ambiguous | -0.697 | Destabilizing | 0.356 | N | 0.363 | 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.