Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7667 | 23224;23225;23226 | chr2:178721020;178721019;178721018 | chr2:179585747;179585746;179585745 |
| N2AB | 7350 | 22273;22274;22275 | chr2:178721020;178721019;178721018 | chr2:179585747;179585746;179585745 |
| N2A | 6423 | 19492;19493;19494 | chr2:178721020;178721019;178721018 | chr2:179585747;179585746;179585745 |
| 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/M | rs374430623  |
-0.221 | 0.994 | D | 0.579 | 0.4 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/M | rs374430623 |
-0.221 | 0.994 | D | 0.579 | 0.4 | None | 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/M | rs374430623 |
-0.221 | 0.994 | D | 0.579 | 0.4 | None | gnomAD-4.0.0 | 2.23174E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64636E-04 | 2.7982E-05 | 2.1966E-05 | 0 |
| T/R | rs374430623 |
-0.574 | 0.973 | N | 0.553 | 0.353 | 0.659491765867 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 1.78E-05 | 0 |
| T/R | rs374430623 |
-0.574 | 0.973 | N | 0.553 | 0.353 | 0.659491765867 | 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/R | rs374430623 |
-0.574 | 0.973 | N | 0.553 | 0.353 | 0.659491765867 | gnomAD-4.0.0 | 4.3395E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69588E-06 | 4.39319E-05 | 1.60185E-05 |
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 | 0.0899 | likely_benign | 0.0875 | benign | -1.127 | Destabilizing | 0.454 | N | 0.485 | neutral | D | 0.538217435 | None | None | N |
| T/C | 0.3923 | ambiguous | 0.3853 | ambiguous | -1.111 | Destabilizing | 0.998 | D | 0.573 | neutral | None | None | None | None | N |
| T/D | 0.3678 | ambiguous | 0.3869 | ambiguous | -1.669 | Destabilizing | 0.728 | D | 0.527 | neutral | None | None | None | None | N |
| T/E | 0.2259 | likely_benign | 0.2609 | benign | -1.529 | Destabilizing | 0.007 | N | 0.299 | neutral | None | None | None | None | N |
| T/F | 0.1696 | likely_benign | 0.177 | benign | -0.905 | Destabilizing | 0.949 | D | 0.612 | neutral | None | None | None | None | N |
| T/G | 0.3275 | likely_benign | 0.3104 | benign | -1.493 | Destabilizing | 0.915 | D | 0.533 | neutral | None | None | None | None | N |
| T/H | 0.1383 | likely_benign | 0.1511 | benign | -1.66 | Destabilizing | 0.974 | D | 0.597 | neutral | None | None | None | None | N |
| T/I | 0.12 | likely_benign | 0.1268 | benign | -0.196 | Destabilizing | 0.728 | D | 0.498 | neutral | None | None | None | None | N |
| T/K | 0.128 | likely_benign | 0.1493 | benign | -0.915 | Destabilizing | 0.837 | D | 0.514 | neutral | N | 0.496736172 | None | None | N |
| T/L | 0.093 | likely_benign | 0.095 | benign | -0.196 | Destabilizing | 0.728 | D | 0.521 | neutral | None | None | None | None | N |
| T/M | 0.0802 | likely_benign | 0.0812 | benign | -0.111 | Destabilizing | 0.994 | D | 0.579 | neutral | D | 0.530926103 | None | None | N |
| T/N | 0.1164 | likely_benign | 0.1117 | benign | -1.472 | Destabilizing | 0.842 | D | 0.517 | neutral | None | None | None | None | N |
| T/P | 0.7343 | likely_pathogenic | 0.719 | pathogenic | -0.474 | Destabilizing | 0.966 | D | 0.559 | neutral | D | 0.52328778 | None | None | N |
| T/Q | 0.1384 | likely_benign | 0.1522 | benign | -1.417 | Destabilizing | 0.728 | D | 0.545 | neutral | None | None | None | None | N |
| T/R | 0.0918 | likely_benign | 0.1082 | benign | -0.885 | Destabilizing | 0.973 | D | 0.553 | neutral | N | 0.451635813 | None | None | N |
| T/S | 0.1098 | likely_benign | 0.1042 | benign | -1.645 | Destabilizing | 0.625 | D | 0.546 | neutral | N | 0.508587961 | None | None | N |
| T/V | 0.1113 | likely_benign | 0.115 | benign | -0.474 | Destabilizing | 0.016 | N | 0.249 | neutral | None | None | None | None | N |
| T/W | 0.3977 | ambiguous | 0.4157 | ambiguous | -0.997 | Destabilizing | 0.998 | D | 0.625 | neutral | None | None | None | None | N |
| T/Y | 0.1738 | likely_benign | 0.1931 | benign | -0.656 | Destabilizing | 0.974 | D | 0.611 | 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.