Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34319 | 103180;103181;103182 | chr2:178533660;178533659;178533658 | chr2:179398387;179398386;179398385 |
| N2AB | 32678 | 98257;98258;98259 | chr2:178533660;178533659;178533658 | chr2:179398387;179398386;179398385 |
| N2A | 31751 | 95476;95477;95478 | chr2:178533660;178533659;178533658 | chr2:179398387;179398386;179398385 |
| N2B | 25254 | 75985;75986;75987 | chr2:178533660;178533659;178533658 | chr2:179398387;179398386;179398385 |
| Novex-1 | 25379 | 76360;76361;76362 | chr2:178533660;178533659;178533658 | chr2:179398387;179398386;179398385 |
| Novex-2 | 25446 | 76561;76562;76563 | chr2:178533660;178533659;178533658 | chr2:179398387;179398386;179398385 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs768829243  |
-1.575 | 0.148 | N | 0.536 | 0.096 | 0.185906805712 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| T/A | rs768829243 |
-1.575 | 0.148 | N | 0.536 | 0.096 | 0.185906805712 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs768829243 |
-1.575 | 0.148 | N | 0.536 | 0.096 | 0.185906805712 | gnomAD-4.0.0 | 8.67492E-06 | None | None | None | None | N | None | 0 | 3.33367E-05 | None | 0 | 0 | None | 0 | 0 | 8.47552E-06 | 0 | 3.20164E-05 |
| T/I | rs549304089 |
-0.192 | None | N | 0.353 | 0.148 | 0.209622950755 | gnomAD-2.1.1 | 6.03E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 4.57546E-04 | None | 0 | 0 | 0 |
| T/I | rs549304089 |
-0.192 | None | N | 0.353 | 0.148 | 0.209622950755 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/I | rs549304089 |
-0.192 | None | N | 0.353 | 0.148 | 0.209622950755 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| T/I | rs549304089 |
-0.192 | None | N | 0.353 | 0.148 | 0.209622950755 | gnomAD-4.0.0 | 2.23062E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22826E-05 | None | 0 | 0 | 0 | 3.84269E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1437 | likely_benign | 0.1247 | benign | -1.046 | Destabilizing | 0.148 | N | 0.536 | neutral | N | 0.494870357 | None | None | N |
| T/C | 0.4156 | ambiguous | 0.4036 | ambiguous | -1.189 | Destabilizing | 0.965 | D | 0.619 | neutral | None | None | None | None | N |
| T/D | 0.6785 | likely_pathogenic | 0.6261 | pathogenic | -2.168 | Highly Destabilizing | 0.888 | D | 0.642 | neutral | None | None | None | None | N |
| T/E | 0.5231 | ambiguous | 0.475 | ambiguous | -1.99 | Destabilizing | 0.888 | D | 0.634 | neutral | None | None | None | None | N |
| T/F | 0.2626 | likely_benign | 0.2496 | benign | -0.726 | Destabilizing | 0.561 | D | 0.625 | neutral | None | None | None | None | N |
| T/G | 0.5321 | ambiguous | 0.4876 | ambiguous | -1.422 | Destabilizing | 0.722 | D | 0.62 | neutral | None | None | None | None | N |
| T/H | 0.2919 | likely_benign | 0.2747 | benign | -1.647 | Destabilizing | 0.965 | D | 0.605 | neutral | None | None | None | None | N |
| T/I | 0.1202 | likely_benign | 0.1084 | benign | -0.076 | Destabilizing | None | N | 0.353 | neutral | N | 0.437264849 | None | None | N |
| T/K | 0.3136 | likely_benign | 0.289 | benign | -0.927 | Destabilizing | 0.662 | D | 0.625 | neutral | N | 0.470377345 | None | None | N |
| T/L | 0.1084 | likely_benign | 0.1022 | benign | -0.076 | Destabilizing | 0.001 | N | 0.347 | neutral | None | None | None | None | N |
| T/M | 0.0882 | likely_benign | 0.0879 | benign | -0.167 | Destabilizing | 0.021 | N | 0.375 | neutral | None | None | None | None | N |
| T/N | 0.2126 | likely_benign | 0.1984 | benign | -1.653 | Destabilizing | 0.888 | D | 0.611 | neutral | None | None | None | None | N |
| T/P | 0.8995 | likely_pathogenic | 0.883 | pathogenic | -0.368 | Destabilizing | 0.856 | D | 0.656 | neutral | N | 0.479630995 | None | None | N |
| T/Q | 0.3312 | likely_benign | 0.306 | benign | -1.474 | Destabilizing | 0.901 | D | 0.663 | neutral | None | None | None | None | N |
| T/R | 0.2449 | likely_benign | 0.2348 | benign | -1.057 | Destabilizing | 0.662 | D | 0.651 | neutral | N | 0.459909635 | None | None | N |
| T/S | 0.2 | likely_benign | 0.1809 | benign | -1.701 | Destabilizing | 0.447 | N | 0.547 | neutral | N | 0.48788567 | None | None | N |
| T/V | 0.1205 | likely_benign | 0.1066 | benign | -0.368 | Destabilizing | 0.007 | N | 0.29 | neutral | None | None | None | None | N |
| T/W | 0.5902 | likely_pathogenic | 0.6071 | pathogenic | -0.976 | Destabilizing | 0.991 | D | 0.621 | neutral | None | None | None | None | N |
| T/Y | 0.3327 | likely_benign | 0.3111 | benign | -0.578 | Destabilizing | 0.901 | D | 0.663 | 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.