Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2431 | 7516;7517;7518 | chr2:178773877;178773876;178773875 | chr2:179638604;179638603;179638602 |
| N2AB | 2431 | 7516;7517;7518 | chr2:178773877;178773876;178773875 | chr2:179638604;179638603;179638602 |
| N2A | 2431 | 7516;7517;7518 | chr2:178773877;178773876;178773875 | chr2:179638604;179638603;179638602 |
| N2B | 2385 | 7378;7379;7380 | chr2:178773877;178773876;178773875 | chr2:179638604;179638603;179638602 |
| Novex-1 | 2385 | 7378;7379;7380 | chr2:178773877;178773876;178773875 | chr2:179638604;179638603;179638602 |
| Novex-2 | 2385 | 7378;7379;7380 | chr2:178773877;178773876;178773875 | chr2:179638604;179638603;179638602 |
| Novex-3 | 2431 | 7516;7517;7518 | chr2:178773877;178773876;178773875 | chr2:179638604;179638603;179638602 |
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/S | None | None | None | N | 0.11 | 0.067 | 0.0762999501168 | gnomAD-4.0.0 | 1.36816E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99308E-07 | 1.15934E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2607 | likely_benign | 0.2554 | benign | -1.023 | Destabilizing | 0.824 | D | 0.234 | neutral | None | None | None | None | I |
| A/D | 0.1153 | likely_benign | 0.1116 | benign | -0.683 | Destabilizing | None | N | 0.261 | neutral | N | 0.468521504 | None | None | I |
| A/E | 0.1309 | likely_benign | 0.13 | benign | -0.806 | Destabilizing | 0.081 | N | 0.263 | neutral | None | None | None | None | I |
| A/F | 0.1827 | likely_benign | 0.1799 | benign | -0.933 | Destabilizing | 0.555 | D | 0.305 | neutral | None | None | None | None | I |
| A/G | 0.0882 | likely_benign | 0.0865 | benign | -0.417 | Destabilizing | None | N | 0.134 | neutral | N | 0.448621083 | None | None | I |
| A/H | 0.2276 | likely_benign | 0.2176 | benign | -0.24 | Destabilizing | 0.824 | D | 0.296 | neutral | None | None | None | None | I |
| A/I | 0.1449 | likely_benign | 0.1419 | benign | -0.483 | Destabilizing | 0.005 | N | 0.223 | neutral | None | None | None | None | I |
| A/K | 0.2302 | likely_benign | 0.2203 | benign | -0.753 | Destabilizing | 0.081 | N | 0.295 | neutral | None | None | None | None | I |
| A/L | 0.1104 | likely_benign | 0.1077 | benign | -0.483 | Destabilizing | 0.035 | N | 0.285 | neutral | None | None | None | None | I |
| A/M | 0.1504 | likely_benign | 0.1528 | benign | -0.779 | Destabilizing | 0.555 | D | 0.257 | neutral | None | None | None | None | I |
| A/N | 0.1046 | likely_benign | 0.1022 | benign | -0.556 | Destabilizing | 0.081 | N | 0.313 | neutral | None | None | None | None | I |
| A/P | 0.1275 | likely_benign | 0.1218 | benign | -0.425 | Destabilizing | 0.317 | N | 0.276 | neutral | N | 0.501245354 | None | None | I |
| A/Q | 0.184 | likely_benign | 0.18 | benign | -0.775 | Destabilizing | 0.38 | N | 0.273 | neutral | None | None | None | None | I |
| A/R | 0.2307 | likely_benign | 0.2236 | benign | -0.295 | Destabilizing | 0.38 | N | 0.273 | neutral | None | None | None | None | I |
| A/S | 0.0631 | likely_benign | 0.0632 | benign | -0.746 | Destabilizing | None | N | 0.11 | neutral | N | 0.488673567 | None | None | I |
| A/T | 0.0688 | likely_benign | 0.0684 | benign | -0.791 | Destabilizing | None | N | 0.227 | neutral | N | 0.497256 | None | None | I |
| A/V | 0.0924 | likely_benign | 0.0917 | benign | -0.425 | Destabilizing | 0.027 | N | 0.241 | neutral | N | 0.500456091 | None | None | I |
| A/W | 0.471 | ambiguous | 0.4581 | ambiguous | -1.035 | Destabilizing | 0.935 | D | 0.373 | neutral | None | None | None | None | I |
| A/Y | 0.2248 | likely_benign | 0.2172 | benign | -0.74 | Destabilizing | 0.555 | D | 0.295 | 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.