Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6659 | 20200;20201;20202 | chr2:178727603;178727602;178727601 | chr2:179592330;179592329;179592328 |
| N2AB | 6342 | 19249;19250;19251 | chr2:178727603;178727602;178727601 | chr2:179592330;179592329;179592328 |
| N2A | 5415 | 16468;16469;16470 | chr2:178727603;178727602;178727601 | chr2:179592330;179592329;179592328 |
| 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 | rs768775530  |
-1.482 | 0.219 | N | 0.279 | 0.209 | 0.178374595973 | gnomAD-2.1.1 | 4.41E-06 | None | None | None | None | I | None | 0 | 3.34E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs768775530 |
-1.482 | 0.219 | N | 0.279 | 0.209 | 0.178374595973 | gnomAD-4.0.0 | 3.35386E-06 | None | None | None | None | I | None | 0 | 5.17357E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | rs16866475 |
-0.61 | 1.0 | N | 0.753 | 0.454 | None | gnomAD-2.1.1 | 4.17069E-03 | None | None | None | None | I | None | 4.21008E-02 | 1.6429E-03 | None | 0 | 0 | None | 8.01E-05 | None | 0 | 8.35E-05 | 9.22793E-04 |
| T/M | rs16866475 |
-0.61 | 1.0 | N | 0.753 | 0.454 | None | gnomAD-3.1.2 | 1.19008E-02 | None | None | None | None | I | None | 4.18156E-02 | 3.54052E-03 | 0 | 0 | 0 | None | 0 | 0 | 1.1772E-04 | 0 | 7.6555E-03 |
| T/M | rs16866475 |
-0.61 | 1.0 | N | 0.753 | 0.454 | None | 1000 genomes | 1.65735E-02 | None | None | None | None | I | None | 5.98E-02 | 5.8E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/M | rs16866475 |
-0.61 | 1.0 | N | 0.753 | 0.454 | None | gnomAD-4.0.0 | 2.25599E-03 | None | None | None | None | I | None | 4.29566E-02 | 2.61914E-03 | None | 0 | 0 | None | 0 | 1.1925E-03 | 6.70306E-05 | 7.09471E-05 | 2.80632E-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 | 0.0604 | likely_benign | 0.0584 | benign | -1.063 | Destabilizing | 0.219 | N | 0.279 | neutral | N | 0.393390012 | None | None | I |
| T/C | 0.5065 | ambiguous | 0.4769 | ambiguous | -0.761 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| T/D | 0.6993 | likely_pathogenic | 0.7317 | pathogenic | -1.359 | Destabilizing | 0.998 | D | 0.763 | deleterious | None | None | None | None | I |
| T/E | 0.6504 | likely_pathogenic | 0.6635 | pathogenic | -1.177 | Destabilizing | 0.993 | D | 0.741 | deleterious | None | None | None | None | I |
| T/F | 0.6761 | likely_pathogenic | 0.6352 | pathogenic | -0.69 | Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | None | None | I |
| T/G | 0.2965 | likely_benign | 0.3094 | benign | -1.494 | Destabilizing | 0.985 | D | 0.692 | prob.neutral | None | None | None | None | I |
| T/H | 0.6748 | likely_pathogenic | 0.6732 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| T/I | 0.4656 | ambiguous | 0.4216 | ambiguous | 0.06 | Stabilizing | 0.998 | D | 0.763 | deleterious | None | None | None | None | I |
| T/K | 0.709 | likely_pathogenic | 0.722 | pathogenic | -0.704 | Destabilizing | 0.996 | D | 0.739 | prob.delet. | N | 0.511318683 | None | None | I |
| T/L | 0.283 | likely_benign | 0.2534 | benign | 0.06 | Stabilizing | 0.985 | D | 0.668 | neutral | None | None | None | None | I |
| T/M | 0.1673 | likely_benign | 0.2062 | benign | 0.162 | Stabilizing | 1.0 | D | 0.753 | deleterious | N | 0.492872033 | None | None | I |
| T/N | 0.3225 | likely_benign | 0.3348 | benign | -1.338 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | I |
| T/P | 0.6495 | likely_pathogenic | 0.6972 | pathogenic | -0.281 | Destabilizing | 0.997 | D | 0.753 | deleterious | N | 0.511572172 | None | None | I |
| T/Q | 0.5898 | likely_pathogenic | 0.5862 | pathogenic | -1.121 | Destabilizing | 0.999 | D | 0.768 | deleterious | None | None | None | None | I |
| T/R | 0.569 | likely_pathogenic | 0.5966 | pathogenic | -0.898 | Destabilizing | 0.999 | D | 0.751 | deleterious | N | 0.511318683 | None | None | I |
| T/S | 0.1364 | likely_benign | 0.1441 | benign | -1.556 | Destabilizing | 0.911 | D | 0.559 | neutral | N | 0.515511146 | None | None | I |
| T/V | 0.2441 | likely_benign | 0.2201 | benign | -0.281 | Destabilizing | 0.985 | D | 0.553 | neutral | None | None | None | None | I |
| T/W | 0.9304 | likely_pathogenic | 0.925 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| T/Y | 0.7212 | likely_pathogenic | 0.6934 | pathogenic | -0.483 | Destabilizing | 0.999 | D | 0.795 | deleterious | 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.