Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18202 | 54829;54830;54831 | chr2:178604083;178604082;178604081 | chr2:179468810;179468809;179468808 |
| N2AB | 16561 | 49906;49907;49908 | chr2:178604083;178604082;178604081 | chr2:179468810;179468809;179468808 |
| N2A | 15634 | 47125;47126;47127 | chr2:178604083;178604082;178604081 | chr2:179468810;179468809;179468808 |
| N2B | 9137 | 27634;27635;27636 | chr2:178604083;178604082;178604081 | chr2:179468810;179468809;179468808 |
| Novex-1 | 9262 | 28009;28010;28011 | chr2:178604083;178604082;178604081 | chr2:179468810;179468809;179468808 |
| Novex-2 | 9329 | 28210;28211;28212 | chr2:178604083;178604082;178604081 | chr2:179468810;179468809;179468808 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1476258275  |
-1.636 | 1.0 | N | 0.787 | 0.409 | 0.333154297509 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/C | rs1476258275 |
-1.636 | 1.0 | N | 0.787 | 0.409 | 0.333154297509 | gnomAD-4.0.0 | 1.59335E-06 | None | None | None | None | N | None | 0 | 2.28739E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | None | None | 1.0 | N | 0.829 | 0.489 | 0.606415853132 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9252 | likely_pathogenic | 0.9142 | pathogenic | -3.454 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/C | 0.896 | likely_pathogenic | 0.8832 | pathogenic | -1.775 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.479211125 | None | None | N |
| W/D | 0.9908 | likely_pathogenic | 0.9897 | pathogenic | -2.809 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/E | 0.9799 | likely_pathogenic | 0.9778 | pathogenic | -2.721 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/F | 0.2661 | likely_benign | 0.2989 | benign | -2.103 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| W/G | 0.9348 | likely_pathogenic | 0.9097 | pathogenic | -3.666 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.472810362 | None | None | N |
| W/H | 0.8251 | likely_pathogenic | 0.8012 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/I | 0.6194 | likely_pathogenic | 0.6349 | pathogenic | -2.64 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/K | 0.9864 | likely_pathogenic | 0.9849 | pathogenic | -2.236 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/L | 0.6013 | likely_pathogenic | 0.5561 | ambiguous | -2.64 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.423952488 | None | None | N |
| W/M | 0.798 | likely_pathogenic | 0.8173 | pathogenic | -2.048 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| W/N | 0.97 | likely_pathogenic | 0.9701 | pathogenic | -2.696 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/P | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -2.937 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| W/Q | 0.9605 | likely_pathogenic | 0.9514 | pathogenic | -2.671 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| W/R | 0.9678 | likely_pathogenic | 0.9575 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.44878943 | None | None | N |
| W/S | 0.8858 | likely_pathogenic | 0.8642 | pathogenic | -3.031 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | N | 0.449136147 | None | None | N |
| W/T | 0.8637 | likely_pathogenic | 0.8798 | pathogenic | -2.889 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| W/V | 0.6269 | likely_pathogenic | 0.6517 | pathogenic | -2.937 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/Y | 0.4524 | ambiguous | 0.4779 | ambiguous | -1.93 | Destabilizing | 1.0 | D | 0.766 | 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.