Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16907 | 50944;50945;50946 | chr2:178611510;178611509;178611508 | chr2:179476237;179476236;179476235 |
| N2AB | 15266 | 46021;46022;46023 | chr2:178611510;178611509;178611508 | chr2:179476237;179476236;179476235 |
| N2A | 14339 | 43240;43241;43242 | chr2:178611510;178611509;178611508 | chr2:179476237;179476236;179476235 |
| N2B | 7842 | 23749;23750;23751 | chr2:178611510;178611509;178611508 | chr2:179476237;179476236;179476235 |
| Novex-1 | 7967 | 24124;24125;24126 | chr2:178611510;178611509;178611508 | chr2:179476237;179476236;179476235 |
| Novex-2 | 8034 | 24325;24326;24327 | chr2:178611510;178611509;178611508 | chr2:179476237;179476236;179476235 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/V | rs750610895  |
-1.322 | None | N | 0.187 | 0.071 | None | gnomAD-2.1.1 | 3.19324E-04 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 7.46703E-03 | 0 | None | 0 | None | 0 | 7.1E-05 | 2.81611E-04 |
| I/V | rs750610895 |
-1.322 | None | N | 0.187 | 0.071 | None | gnomAD-3.1.2 | 2.36883E-04 | None | None | None | None | N | None | 2.41E-05 | 2.62329E-04 | 0 | 6.91643E-03 | 0 | None | 0 | 0 | 1.03035E-04 | 0 | 0 |
| I/V | rs750610895 |
-1.322 | None | N | 0.187 | 0.071 | None | gnomAD-4.0.0 | 1.82283E-04 | None | None | None | None | N | None | 1.33618E-05 | 1.50145E-04 | None | 7.06415E-03 | 0 | None | 0 | 0 | 3.8158E-05 | 0 | 4.80677E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.5115 | ambiguous | 0.7568 | pathogenic | -2.235 | Highly Destabilizing | 0.218 | N | 0.457 | neutral | None | None | None | None | N |
| I/C | 0.7178 | likely_pathogenic | 0.8345 | pathogenic | -1.283 | Destabilizing | 0.973 | D | 0.617 | neutral | None | None | None | None | N |
| I/D | 0.9175 | likely_pathogenic | 0.976 | pathogenic | -2.381 | Highly Destabilizing | 0.906 | D | 0.681 | prob.neutral | None | None | None | None | N |
| I/E | 0.8044 | likely_pathogenic | 0.9279 | pathogenic | -2.17 | Highly Destabilizing | 0.906 | D | 0.644 | neutral | None | None | None | None | N |
| I/F | 0.3498 | ambiguous | 0.4759 | ambiguous | -1.33 | Destabilizing | 0.826 | D | 0.548 | neutral | None | None | None | None | N |
| I/G | 0.7748 | likely_pathogenic | 0.9373 | pathogenic | -2.766 | Highly Destabilizing | 0.906 | D | 0.628 | neutral | None | None | None | None | N |
| I/H | 0.8029 | likely_pathogenic | 0.9116 | pathogenic | -2.296 | Highly Destabilizing | 0.991 | D | 0.697 | prob.neutral | None | None | None | None | N |
| I/K | 0.7325 | likely_pathogenic | 0.8745 | pathogenic | -1.514 | Destabilizing | 0.879 | D | 0.651 | neutral | D | 0.530333387 | None | None | N |
| I/L | 0.1366 | likely_benign | 0.2115 | benign | -0.711 | Destabilizing | 0.084 | N | 0.304 | neutral | N | 0.480083533 | None | None | N |
| I/M | 0.1461 | likely_benign | 0.2132 | benign | -0.542 | Destabilizing | 0.782 | D | 0.602 | neutral | N | 0.474365984 | None | None | N |
| I/N | 0.5458 | ambiguous | 0.7878 | pathogenic | -1.771 | Destabilizing | 0.967 | D | 0.706 | prob.neutral | None | None | None | None | N |
| I/P | 0.9432 | likely_pathogenic | 0.9774 | pathogenic | -1.199 | Destabilizing | 0.967 | D | 0.686 | prob.neutral | None | None | None | None | N |
| I/Q | 0.6706 | likely_pathogenic | 0.8507 | pathogenic | -1.648 | Destabilizing | 0.967 | D | 0.708 | prob.delet. | None | None | None | None | N |
| I/R | 0.6664 | likely_pathogenic | 0.835 | pathogenic | -1.299 | Destabilizing | 0.879 | D | 0.709 | prob.delet. | D | 0.554858906 | None | None | N |
| I/S | 0.5311 | ambiguous | 0.7597 | pathogenic | -2.459 | Highly Destabilizing | 0.826 | D | 0.591 | neutral | None | None | None | None | N |
| I/T | 0.4165 | ambiguous | 0.6083 | pathogenic | -2.106 | Highly Destabilizing | 0.505 | D | 0.495 | neutral | N | 0.466649978 | None | None | N |
| I/V | 0.0613 | likely_benign | 0.0719 | benign | -1.199 | Destabilizing | None | N | 0.187 | neutral | N | 0.397531358 | None | None | N |
| I/W | 0.9281 | likely_pathogenic | 0.9646 | pathogenic | -1.755 | Destabilizing | 0.991 | D | 0.711 | prob.delet. | None | None | None | None | N |
| I/Y | 0.8061 | likely_pathogenic | 0.9043 | pathogenic | -1.42 | Destabilizing | 0.906 | D | 0.628 | neutral | 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.