Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4750 | 14473;14474;14475 | chr2:178738205;178738204;178738203 | chr2:179602932;179602931;179602930 |
| N2AB | 4433 | 13522;13523;13524 | chr2:178738205;178738204;178738203 | chr2:179602932;179602931;179602930 |
| N2A | 3506 | 10741;10742;10743 | chr2:178738205;178738204;178738203 | chr2:179602932;179602931;179602930 |
| N2B | 4387 | 13384;13385;13386 | chr2:178738205;178738204;178738203 | chr2:179602932;179602931;179602930 |
| Novex-1 | 4512 | 13759;13760;13761 | chr2:178738205;178738204;178738203 | chr2:179602932;179602931;179602930 |
| Novex-2 | 4579 | 13960;13961;13962 | chr2:178738205;178738204;178738203 | chr2:179602932;179602931;179602930 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs1560880563  |
None | 0.971 | N | 0.801 | 0.345 | 0.283371740733 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs1560880563 |
None | 0.971 | N | 0.801 | 0.345 | 0.283371740733 | gnomAD-4.0.0 | 1.36851E-06 | None | None | None | None | N | None | 0 | 2.23664E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65667E-05 |
| S/T | rs1560880563 |
None | 0.006 | N | 0.333 | 0.104 | 0.152612264143 | gnomAD-4.0.0 | 6.84255E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15945E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1176 | likely_benign | 0.14 | benign | -0.512 | Destabilizing | 0.489 | N | 0.521 | neutral | N | 0.489183726 | None | None | N |
| S/C | 0.1844 | likely_benign | 0.2448 | benign | -0.239 | Destabilizing | 0.997 | D | 0.775 | deleterious | N | 0.49237478 | None | None | N |
| S/D | 0.5644 | likely_pathogenic | 0.6736 | pathogenic | 0.764 | Stabilizing | 0.86 | D | 0.691 | prob.neutral | None | None | None | None | N |
| S/E | 0.7012 | likely_pathogenic | 0.7596 | pathogenic | 0.673 | Stabilizing | 0.86 | D | 0.697 | prob.neutral | None | None | None | None | N |
| S/F | 0.2656 | likely_benign | 0.3893 | ambiguous | -1.125 | Destabilizing | 0.971 | D | 0.839 | deleterious | N | 0.491130694 | None | None | N |
| S/G | 0.1545 | likely_benign | 0.2146 | benign | -0.606 | Destabilizing | 0.86 | D | 0.648 | neutral | None | None | None | None | N |
| S/H | 0.4395 | ambiguous | 0.5039 | ambiguous | -1.106 | Destabilizing | 0.998 | D | 0.773 | deleterious | None | None | None | None | N |
| S/I | 0.2722 | likely_benign | 0.3749 | ambiguous | -0.391 | Destabilizing | 0.915 | D | 0.827 | deleterious | None | None | None | None | N |
| S/K | 0.8071 | likely_pathogenic | 0.8751 | pathogenic | -0.194 | Destabilizing | 0.86 | D | 0.693 | prob.neutral | None | None | None | None | N |
| S/L | 0.1542 | likely_benign | 0.2248 | benign | -0.391 | Destabilizing | 0.754 | D | 0.748 | deleterious | None | None | None | None | N |
| S/M | 0.3046 | likely_benign | 0.3798 | ambiguous | -0.127 | Destabilizing | 0.994 | D | 0.775 | deleterious | None | None | None | None | N |
| S/N | 0.1787 | likely_benign | 0.2644 | benign | 0.099 | Stabilizing | 0.86 | D | 0.701 | prob.neutral | None | None | None | None | N |
| S/P | 0.4653 | ambiguous | 0.6704 | pathogenic | -0.405 | Destabilizing | 0.971 | D | 0.801 | deleterious | N | 0.49237478 | None | None | N |
| S/Q | 0.6236 | likely_pathogenic | 0.6714 | pathogenic | -0.125 | Destabilizing | 0.978 | D | 0.757 | deleterious | None | None | None | None | N |
| S/R | 0.714 | likely_pathogenic | 0.8162 | pathogenic | -0.112 | Destabilizing | 0.956 | D | 0.801 | deleterious | None | None | None | None | N |
| S/T | 0.0844 | likely_benign | 0.0928 | benign | -0.108 | Destabilizing | 0.006 | N | 0.333 | neutral | N | 0.490848369 | None | None | N |
| S/V | 0.2644 | likely_benign | 0.337 | benign | -0.405 | Destabilizing | 0.754 | D | 0.754 | deleterious | None | None | None | None | N |
| S/W | 0.4297 | ambiguous | 0.5279 | ambiguous | -1.084 | Destabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | N |
| S/Y | 0.2202 | likely_benign | 0.3042 | benign | -0.809 | Destabilizing | 0.971 | D | 0.835 | deleterious | N | 0.490136297 | 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.