Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6181 | 18766;18767;18768 | chr2:178729712;178729711;178729710 | chr2:179594439;179594438;179594437 |
| N2AB | 5864 | 17815;17816;17817 | chr2:178729712;178729711;178729710 | chr2:179594439;179594438;179594437 |
| N2A | 4937 | 15034;15035;15036 | chr2:178729712;178729711;178729710 | chr2:179594439;179594438;179594437 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/L | rs201951252  |
None | 0.251 | N | 0.534 | 0.296 | 0.470648230714 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/L | rs201951252 |
None | 0.251 | N | 0.534 | 0.296 | 0.470648230714 | gnomAD-4.0.0 | 1.23944E-06 | None | None | None | None | I | None | 0 | 3.33411E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs201951252 |
-0.58 | 0.005 | N | 0.247 | 0.133 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | I | None | 1.65358E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| R/Q | rs201951252 |
-0.58 | 0.005 | N | 0.247 | 0.133 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | I | None | 1.6887E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/Q | rs201951252 |
-0.58 | 0.005 | N | 0.247 | 0.133 | None | gnomAD-4.0.0 | 2.78874E-05 | None | None | None | None | I | None | 1.73537E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 2.7125E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2023 | likely_benign | 0.231 | benign | -0.799 | Destabilizing | 0.035 | N | 0.452 | neutral | None | None | None | None | I |
| R/C | 0.1162 | likely_benign | 0.1303 | benign | -0.701 | Destabilizing | 0.935 | D | 0.549 | neutral | None | None | None | None | I |
| R/D | 0.3779 | ambiguous | 0.4369 | ambiguous | -0.139 | Destabilizing | 0.149 | N | 0.521 | neutral | None | None | None | None | I |
| R/E | 0.1655 | likely_benign | 0.1989 | benign | -0.036 | Destabilizing | 0.081 | N | 0.4 | neutral | None | None | None | None | I |
| R/F | 0.2753 | likely_benign | 0.3069 | benign | -0.746 | Destabilizing | 0.555 | D | 0.533 | neutral | None | None | None | None | I |
| R/G | 0.1532 | likely_benign | 0.1687 | benign | -1.088 | Destabilizing | 0.144 | N | 0.515 | neutral | N | 0.491644265 | None | None | I |
| R/H | 0.0677 | likely_benign | 0.0697 | benign | -1.41 | Destabilizing | 0.001 | N | 0.263 | neutral | None | None | None | None | I |
| R/I | 0.1482 | likely_benign | 0.1627 | benign | -0.029 | Destabilizing | 0.555 | D | 0.543 | neutral | None | None | None | None | I |
| R/K | 0.0849 | likely_benign | 0.0901 | benign | -0.866 | Destabilizing | 0.035 | N | 0.414 | neutral | None | None | None | None | I |
| R/L | 0.1406 | likely_benign | 0.1526 | benign | -0.029 | Destabilizing | 0.251 | N | 0.534 | neutral | N | 0.509161177 | None | None | I |
| R/M | 0.1692 | likely_benign | 0.1836 | benign | -0.257 | Destabilizing | 0.555 | D | 0.478 | neutral | None | None | None | None | I |
| R/N | 0.28 | likely_benign | 0.3139 | benign | -0.255 | Destabilizing | 0.149 | N | 0.42 | neutral | None | None | None | None | I |
| R/P | 0.8514 | likely_pathogenic | 0.8711 | pathogenic | -0.265 | Destabilizing | 0.705 | D | 0.526 | neutral | N | 0.514610366 | None | None | I |
| R/Q | 0.064 | likely_benign | 0.0717 | benign | -0.48 | Destabilizing | 0.005 | N | 0.247 | neutral | N | 0.464082249 | None | None | I |
| R/S | 0.1992 | likely_benign | 0.2215 | benign | -1.002 | Destabilizing | 0.002 | N | 0.295 | neutral | None | None | None | None | I |
| R/T | 0.1132 | likely_benign | 0.1265 | benign | -0.728 | Destabilizing | 0.081 | N | 0.455 | neutral | None | None | None | None | I |
| R/V | 0.1921 | likely_benign | 0.2129 | benign | -0.265 | Destabilizing | 0.38 | N | 0.52 | neutral | None | None | None | None | I |
| R/W | 0.1011 | likely_benign | 0.1086 | benign | -0.422 | Destabilizing | 0.935 | D | 0.635 | neutral | None | None | None | None | I |
| R/Y | 0.198 | likely_benign | 0.2275 | benign | -0.119 | Destabilizing | 0.38 | N | 0.529 | 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.