Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7221 | 21886;21887;21888 | chr2:178723439;178723438;178723437 | chr2:179588166;179588165;179588164 |
| N2AB | 6904 | 20935;20936;20937 | chr2:178723439;178723438;178723437 | chr2:179588166;179588165;179588164 |
| N2A | 5977 | 18154;18155;18156 | chr2:178723439;178723438;178723437 | chr2:179588166;179588165;179588164 |
| 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 | rs879220825  |
None | 0.704 | N | 0.371 | 0.33 | 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 |
| T/A | rs879220825 |
None | 0.704 | N | 0.371 | 0.33 | None | gnomAD-4.0.0 | 6.57142E-06 | None | None | None | None | N | None | 2.41173E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1360941673 |
None | 0.988 | N | 0.603 | 0.385 | 0.636959685889 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs879220825 |
-0.537 | 0.035 | D | 0.329 | 0.327 | 0.417460480802 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/P | rs879220825 |
-0.537 | 0.035 | D | 0.329 | 0.327 | 0.417460480802 | gnomAD-4.0.0 | 1.59337E-06 | None | None | None | None | N | None | 0 | 2.28969E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0957 | likely_benign | 0.096 | benign | -0.659 | Destabilizing | 0.704 | D | 0.371 | neutral | N | 0.490251913 | None | None | N |
| T/C | 0.5784 | likely_pathogenic | 0.5698 | pathogenic | -0.341 | Destabilizing | 0.999 | D | 0.575 | neutral | None | None | None | None | N |
| T/D | 0.4693 | ambiguous | 0.446 | ambiguous | -0.279 | Destabilizing | 0.939 | D | 0.573 | neutral | None | None | None | None | N |
| T/E | 0.3247 | likely_benign | 0.3259 | benign | -0.316 | Destabilizing | 0.759 | D | 0.518 | neutral | None | None | None | None | N |
| T/F | 0.2998 | likely_benign | 0.2832 | benign | -0.881 | Destabilizing | 0.997 | D | 0.668 | neutral | None | None | None | None | N |
| T/G | 0.3156 | likely_benign | 0.2999 | benign | -0.874 | Destabilizing | 0.939 | D | 0.601 | neutral | None | None | None | None | N |
| T/H | 0.2447 | likely_benign | 0.2543 | benign | -1.209 | Destabilizing | 0.991 | D | 0.652 | neutral | None | None | None | None | N |
| T/I | 0.2279 | likely_benign | 0.2222 | benign | -0.19 | Destabilizing | 0.988 | D | 0.603 | neutral | N | 0.503787493 | None | None | N |
| T/K | 0.1507 | likely_benign | 0.1624 | benign | -0.708 | Destabilizing | 0.884 | D | 0.545 | neutral | None | None | None | None | N |
| T/L | 0.1475 | likely_benign | 0.1456 | benign | -0.19 | Destabilizing | 0.969 | D | 0.552 | neutral | None | None | None | None | N |
| T/M | 0.1163 | likely_benign | 0.1188 | benign | 0.16 | Stabilizing | 0.997 | D | 0.595 | neutral | None | None | None | None | N |
| T/N | 0.1553 | likely_benign | 0.1469 | benign | -0.524 | Destabilizing | 0.92 | D | 0.535 | neutral | N | 0.492987392 | None | None | N |
| T/P | 0.1622 | likely_benign | 0.152 | benign | -0.315 | Destabilizing | 0.035 | N | 0.329 | neutral | D | 0.530251312 | None | None | N |
| T/Q | 0.1959 | likely_benign | 0.2065 | benign | -0.758 | Destabilizing | 0.373 | N | 0.299 | neutral | None | None | None | None | N |
| T/R | 0.1209 | likely_benign | 0.1278 | benign | -0.408 | Destabilizing | 0.939 | D | 0.591 | neutral | None | None | None | None | N |
| T/S | 0.1125 | likely_benign | 0.1098 | benign | -0.745 | Destabilizing | 0.159 | N | 0.226 | neutral | N | 0.48976734 | None | None | N |
| T/V | 0.1788 | likely_benign | 0.174 | benign | -0.315 | Destabilizing | 0.969 | D | 0.554 | neutral | None | None | None | None | N |
| T/W | 0.6904 | likely_pathogenic | 0.6858 | pathogenic | -0.829 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | N |
| T/Y | 0.3618 | ambiguous | 0.3638 | ambiguous | -0.598 | Destabilizing | 0.997 | D | 0.668 | 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.