Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4957 | 15094;15095;15096 | chr2:178735577;178735576;178735575 | chr2:179600304;179600303;179600302 |
| N2AB | 4640 | 14143;14144;14145 | chr2:178735577;178735576;178735575 | chr2:179600304;179600303;179600302 |
| N2A | 3713 | 11362;11363;11364 | chr2:178735577;178735576;178735575 | chr2:179600304;179600303;179600302 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs780405420  |
-0.889 | 0.081 | N | 0.429 | 0.193 | 0.302459207581 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs780405420 |
-0.889 | 0.081 | N | 0.429 | 0.193 | 0.302459207581 | gnomAD-4.0.0 | 1.36918E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52653E-05 | None | 0 | 0 | 8.9962E-07 | 0 | 0 |
| T/I | rs72648925 |
-0.135 | 0.602 | N | 0.612 | 0.162 | 0.429552544315 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 1.295E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| T/I | rs72648925 |
-0.135 | 0.602 | N | 0.612 | 0.162 | 0.429552544315 | 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/I | rs72648925 |
-0.135 | 0.602 | N | 0.612 | 0.162 | 0.429552544315 | gnomAD-4.0.0 | 2.7901E-05 | None | None | None | None | N | None | 2.67258E-05 | 1.67051E-05 | None | 0 | 0 | None | 0 | 0 | 3.56055E-05 | 0 | 0 |
| T/P | None | -0.488 | 0.301 | D | 0.577 | 0.332 | None | gnomAD-2.1.1 | 1.07562E-04 | None | None | None | None | N | None | 4.14E-05 | 1.42183E-04 | None | 2.9098E-04 | 0 | None | 0 | None | 0 | 1.64644E-04 | 0 |
| T/P | None | -0.488 | 0.301 | D | 0.577 | 0.332 | None | gnomAD-3.1.2 | 1.37994E-04 | None | None | None | None | N | None | 0 | 1.96567E-04 | 0 | 2.88018E-04 | 0 | None | 0 | 0 | 2.49919E-04 | 0 | 0 |
| T/P | None | -0.488 | 0.301 | D | 0.577 | 0.332 | None | gnomAD-4.0.0 | 9.36197E-05 | None | None | None | None | N | None | 1.33626E-05 | 2.17152E-04 | None | 1.35263E-04 | 0 | None | 0 | 0 | 1.09359E-04 | 0 | 6.41108E-05 |
| T/S | rs72648925 |
-0.552 | 0.042 | N | 0.414 | 0.12 | 0.268211541103 | gnomAD-2.1.1 | 2.83993E-03 | None | None | None | None | N | None | 2.89783E-04 | 5.17663E-03 | None | 1.02733E-02 | 0 | None | 1.1495E-03 | None | 3.21958E-04 | 3.30072E-03 | 4.65576E-03 |
| T/S | rs72648925 |
-0.552 | 0.042 | N | 0.414 | 0.12 | 0.268211541103 | gnomAD-3.1.2 | 2.87183E-03 | None | None | None | None | N | None | 6.99604E-04 | 4.84483E-03 | 7.23684E-02 | 9.2219E-03 | 0 | None | 2.82646E-04 | 1.89873E-02 | 3.07272E-03 | 1.24275E-03 | 5.73614E-03 |
| T/S | rs72648925 |
-0.552 | 0.042 | N | 0.414 | 0.12 | 0.268211541103 | 1000 genomes | 1.79712E-03 | None | None | None | None | N | None | 0 | 4.3E-03 | None | None | 0 | 5E-03 | None | None | None | 1E-03 | None |
| T/S | rs72648925 |
-0.552 | 0.042 | N | 0.414 | 0.12 | 0.268211541103 | gnomAD-4.0.0 | 2.98458E-03 | None | None | None | None | N | None | 6.67058E-04 | 5.21025E-03 | None | 9.53605E-03 | 0 | None | 3.44148E-04 | 2.09779E-02 | 2.98835E-03 | 1.02297E-03 | 5.39995E-03 |
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 | 0.0716 | likely_benign | 0.0764 | benign | -1.121 | Destabilizing | 0.081 | N | 0.429 | neutral | N | 0.50934278 | None | None | N |
| T/C | 0.2841 | likely_benign | 0.3263 | benign | -0.684 | Destabilizing | 0.958 | D | 0.573 | neutral | None | None | None | None | N |
| T/D | 0.1953 | likely_benign | 0.2433 | benign | -0.37 | Destabilizing | 0.001 | N | 0.267 | neutral | None | None | None | None | N |
| T/E | 0.1733 | likely_benign | 0.2079 | benign | -0.361 | Destabilizing | 0.055 | N | 0.462 | neutral | None | None | None | None | N |
| T/F | 0.1211 | likely_benign | 0.1424 | benign | -1.267 | Destabilizing | 0.667 | D | 0.59 | neutral | None | None | None | None | N |
| T/G | 0.1755 | likely_benign | 0.2226 | benign | -1.371 | Destabilizing | 0.055 | N | 0.481 | neutral | None | None | None | None | N |
| T/H | 0.1279 | likely_benign | 0.1426 | benign | -1.635 | Destabilizing | 0.002 | N | 0.379 | neutral | None | None | None | None | N |
| T/I | 0.0818 | likely_benign | 0.0901 | benign | -0.539 | Destabilizing | 0.602 | D | 0.612 | neutral | N | 0.48891841 | None | None | N |
| T/K | 0.1097 | likely_benign | 0.1142 | benign | -0.734 | Destabilizing | 0.002 | N | 0.273 | neutral | None | None | None | None | N |
| T/L | 0.065 | likely_benign | 0.0719 | benign | -0.539 | Destabilizing | 0.22 | N | 0.503 | neutral | None | None | None | None | N |
| T/M | 0.0752 | likely_benign | 0.0754 | benign | -0.114 | Destabilizing | 0.859 | D | 0.587 | neutral | None | None | None | None | N |
| T/N | 0.0666 | likely_benign | 0.0706 | benign | -0.715 | Destabilizing | None | N | 0.173 | neutral | N | 0.505432155 | None | None | N |
| T/P | 0.1162 | likely_benign | 0.1436 | benign | -0.703 | Destabilizing | 0.301 | N | 0.577 | neutral | D | 0.610573589 | None | None | N |
| T/Q | 0.1321 | likely_benign | 0.1434 | benign | -0.932 | Destabilizing | 0.22 | N | 0.553 | neutral | None | None | None | None | N |
| T/R | 0.0879 | likely_benign | 0.0884 | benign | -0.49 | Destabilizing | 0.124 | N | 0.499 | neutral | None | None | None | None | N |
| T/S | 0.0819 | likely_benign | 0.0918 | benign | -1.051 | Destabilizing | 0.042 | N | 0.414 | neutral | N | 0.495549489 | None | None | N |
| T/V | 0.0861 | likely_benign | 0.095 | benign | -0.703 | Destabilizing | 0.364 | N | 0.41 | neutral | None | None | None | None | N |
| T/W | 0.3468 | ambiguous | 0.3919 | ambiguous | -1.134 | Destabilizing | 0.958 | D | 0.593 | neutral | None | None | None | None | N |
| T/Y | 0.1445 | likely_benign | 0.159 | benign | -0.907 | Destabilizing | 0.497 | N | 0.599 | 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.