Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2514 | 7765;7766;7767 | chr2:178773516;178773515;178773514 | chr2:179638243;179638242;179638241 |
| N2AB | 2514 | 7765;7766;7767 | chr2:178773516;178773515;178773514 | chr2:179638243;179638242;179638241 |
| N2A | 2514 | 7765;7766;7767 | chr2:178773516;178773515;178773514 | chr2:179638243;179638242;179638241 |
| N2B | 2468 | 7627;7628;7629 | chr2:178773516;178773515;178773514 | chr2:179638243;179638242;179638241 |
| Novex-1 | 2468 | 7627;7628;7629 | chr2:178773516;178773515;178773514 | chr2:179638243;179638242;179638241 |
| Novex-2 | 2468 | 7627;7628;7629 | chr2:178773516;178773515;178773514 | chr2:179638243;179638242;179638241 |
| Novex-3 | 2514 | 7765;7766;7767 | chr2:178773516;178773515;178773514 | chr2:179638243;179638242;179638241 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs375309644  |
-1.217 | 0.011 | N | 0.274 | 0.291 | 0.208816687407 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs375309644 |
-1.217 | 0.011 | N | 0.274 | 0.291 | 0.208816687407 | gnomAD-4.0.0 | 6.57358E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | None | None | None | N | 0.297 | 0.197 | 0.221019684889 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/T | rs375309644 |
-0.681 | 0.025 | N | 0.389 | 0.331 | None | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| P/T | rs375309644 |
-0.681 | 0.025 | N | 0.389 | 0.331 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs375309644 |
-0.681 | 0.025 | N | 0.389 | 0.331 | None | gnomAD-4.0.0 | 2.56157E-06 | None | None | None | None | N | None | 1.6921E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39188E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0699 | likely_benign | 0.0674 | benign | -1.454 | Destabilizing | 0.011 | N | 0.274 | neutral | N | 0.432887084 | None | None | N |
| P/C | 0.2332 | likely_benign | 0.2375 | benign | -0.732 | Destabilizing | 0.001 | N | 0.355 | neutral | None | None | None | None | N |
| P/D | 0.2789 | likely_benign | 0.2605 | benign | -1.403 | Destabilizing | 0.064 | N | 0.432 | neutral | None | None | None | None | N |
| P/E | 0.1791 | likely_benign | 0.1705 | benign | -1.448 | Destabilizing | 0.033 | N | 0.349 | neutral | None | None | None | None | N |
| P/F | 0.2663 | likely_benign | 0.269 | benign | -1.355 | Destabilizing | 0.367 | N | 0.575 | neutral | None | None | None | None | N |
| P/G | 0.2023 | likely_benign | 0.1981 | benign | -1.73 | Destabilizing | 0.064 | N | 0.348 | neutral | None | None | None | None | N |
| P/H | 0.1017 | likely_benign | 0.1063 | benign | -1.35 | Destabilizing | None | N | 0.263 | neutral | N | 0.380274576 | None | None | N |
| P/I | 0.1523 | likely_benign | 0.1484 | benign | -0.804 | Destabilizing | 0.076 | N | 0.503 | neutral | None | None | None | None | N |
| P/K | 0.1346 | likely_benign | 0.136 | benign | -1.077 | Destabilizing | 0.033 | N | 0.345 | neutral | None | None | None | None | N |
| P/L | 0.0879 | likely_benign | 0.0885 | benign | -0.804 | Destabilizing | None | N | 0.368 | neutral | N | 0.429075319 | None | None | N |
| P/M | 0.1971 | likely_benign | 0.1961 | benign | -0.415 | Destabilizing | 0.367 | N | 0.517 | neutral | None | None | None | None | N |
| P/N | 0.1679 | likely_benign | 0.1594 | benign | -0.736 | Destabilizing | 0.064 | N | 0.433 | neutral | None | None | None | None | N |
| P/Q | 0.0945 | likely_benign | 0.0971 | benign | -0.989 | Destabilizing | 0.001 | N | 0.189 | neutral | None | None | None | None | N |
| P/R | 0.0922 | likely_benign | 0.0976 | benign | -0.513 | Destabilizing | None | N | 0.297 | neutral | N | 0.373637927 | None | None | N |
| P/S | 0.09 | likely_benign | 0.088 | benign | -1.183 | Destabilizing | 0.002 | N | 0.2 | neutral | N | 0.414945632 | None | None | N |
| P/T | 0.0791 | likely_benign | 0.0774 | benign | -1.13 | Destabilizing | 0.025 | N | 0.389 | neutral | N | 0.364121824 | None | None | N |
| P/V | 0.1283 | likely_benign | 0.1257 | benign | -0.986 | Destabilizing | 0.033 | N | 0.409 | neutral | None | None | None | None | N |
| P/W | 0.4023 | ambiguous | 0.4193 | ambiguous | -1.515 | Destabilizing | 0.931 | D | 0.491 | neutral | None | None | None | None | N |
| P/Y | 0.236 | likely_benign | 0.2407 | benign | -1.24 | Destabilizing | 0.142 | N | 0.557 | 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.