Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4784 | 14575;14576;14577 | chr2:178738103;178738102;178738101 | chr2:179602830;179602829;179602828 |
| N2AB | 4467 | 13624;13625;13626 | chr2:178738103;178738102;178738101 | chr2:179602830;179602829;179602828 |
| N2A | 3540 | 10843;10844;10845 | chr2:178738103;178738102;178738101 | chr2:179602830;179602829;179602828 |
| N2B | 4421 | 13486;13487;13488 | chr2:178738103;178738102;178738101 | chr2:179602830;179602829;179602828 |
| Novex-1 | 4546 | 13861;13862;13863 | chr2:178738103;178738102;178738101 | chr2:179602830;179602829;179602828 |
| Novex-2 | 4613 | 14062;14063;14064 | chr2:178738103;178738102;178738101 | chr2:179602830;179602829;179602828 |
| 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/I | rs376517129  |
-0.031 | 0.984 | N | 0.717 | 0.348 | None | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/I | rs376517129 |
-0.031 | 0.984 | N | 0.717 | 0.348 | 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/I | rs376517129 |
-0.031 | 0.984 | N | 0.717 | 0.348 | None | gnomAD-4.0.0 | 1.85942E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54328E-06 | 0 | 0 |
| T/P | rs1244858847 |
-0.511 | 0.984 | N | 0.725 | 0.375 | 0.564392371781 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 1.39743E-04 | 0 | 0 |
| T/R | None | None | 0.968 | N | 0.725 | 0.358 | 0.736588646186 | gnomAD-4.0.0 | 6.84345E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52118E-05 | 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 | 0.106 | likely_benign | 0.1363 | benign | -0.63 | Destabilizing | 0.103 | N | 0.35 | neutral | N | 0.499355008 | None | None | N |
| T/C | 0.6237 | likely_pathogenic | 0.6865 | pathogenic | -0.371 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/D | 0.5422 | ambiguous | 0.6279 | pathogenic | -0.153 | Destabilizing | 0.976 | D | 0.686 | prob.neutral | None | None | None | None | N |
| T/E | 0.3828 | ambiguous | 0.4887 | ambiguous | -0.209 | Destabilizing | 0.919 | D | 0.66 | neutral | None | None | None | None | N |
| T/F | 0.338 | likely_benign | 0.4138 | ambiguous | -0.926 | Destabilizing | 0.996 | D | 0.796 | deleterious | None | None | None | None | N |
| T/G | 0.3508 | ambiguous | 0.4121 | ambiguous | -0.814 | Destabilizing | 0.851 | D | 0.692 | prob.neutral | None | None | None | None | N |
| T/H | 0.2958 | likely_benign | 0.3558 | ambiguous | -1.126 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| T/I | 0.2788 | likely_benign | 0.384 | ambiguous | -0.248 | Destabilizing | 0.984 | D | 0.717 | prob.delet. | N | 0.514628026 | None | None | N |
| T/K | 0.1919 | likely_benign | 0.2472 | benign | -0.637 | Destabilizing | 0.896 | D | 0.663 | neutral | N | 0.498990074 | None | None | N |
| T/L | 0.1671 | likely_benign | 0.2111 | benign | -0.248 | Destabilizing | 0.919 | D | 0.607 | neutral | None | None | None | None | N |
| T/M | 0.1128 | likely_benign | 0.131 | benign | 0.083 | Stabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/N | 0.1835 | likely_benign | 0.2292 | benign | -0.43 | Destabilizing | 0.976 | D | 0.58 | neutral | None | None | None | None | N |
| T/P | 0.2861 | likely_benign | 0.3436 | ambiguous | -0.345 | Destabilizing | 0.984 | D | 0.725 | prob.delet. | N | 0.515030704 | None | None | N |
| T/Q | 0.2444 | likely_benign | 0.2989 | benign | -0.702 | Destabilizing | 0.988 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/R | 0.1706 | likely_benign | 0.2123 | benign | -0.306 | Destabilizing | 0.968 | D | 0.725 | prob.delet. | N | 0.513623843 | None | None | N |
| T/S | 0.1164 | likely_benign | 0.1338 | benign | -0.67 | Destabilizing | 0.103 | N | 0.321 | neutral | N | 0.388028105 | None | None | N |
| T/V | 0.202 | likely_benign | 0.2648 | benign | -0.345 | Destabilizing | 0.919 | D | 0.532 | neutral | None | None | None | None | N |
| T/W | 0.7454 | likely_pathogenic | 0.794 | pathogenic | -0.857 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| T/Y | 0.4335 | ambiguous | 0.5112 | ambiguous | -0.624 | Destabilizing | 0.996 | D | 0.793 | deleterious | 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.