Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4954 | 15085;15086;15087 | chr2:178735586;178735585;178735584 | chr2:179600313;179600312;179600311 |
| N2AB | 4637 | 14134;14135;14136 | chr2:178735586;178735585;178735584 | chr2:179600313;179600312;179600311 |
| N2A | 3710 | 11353;11354;11355 | chr2:178735586;178735585;178735584 | chr2:179600313;179600312;179600311 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs1443901302  |
None | 1.0 | D | 0.823 | 0.75 | 0.7124574672 | gnomAD-4.0.0 | 1.59309E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85972E-06 | 0 | 0 |
| D/Y | rs1443901302 |
0.91 | 1.0 | D | 0.859 | 0.772 | 0.895316208075 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| D/Y | rs1443901302 |
0.91 | 1.0 | D | 0.859 | 0.772 | 0.895316208075 | gnomAD-4.0.0 | 1.5931E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85972E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8507 | likely_pathogenic | 0.9027 | pathogenic | 0.385 | Stabilizing | 1.0 | D | 0.853 | deleterious | D | 0.823862034 | None | None | N |
| D/C | 0.9575 | likely_pathogenic | 0.9742 | pathogenic | 0.227 | Stabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| D/E | 0.7229 | likely_pathogenic | 0.761 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.585 | neutral | D | 0.756232114 | None | None | N |
| D/F | 0.9573 | likely_pathogenic | 0.9727 | pathogenic | 1.084 | Stabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| D/G | 0.8628 | likely_pathogenic | 0.9086 | pathogenic | -0.079 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.82306577 | None | None | N |
| D/H | 0.838 | likely_pathogenic | 0.8839 | pathogenic | 0.663 | Stabilizing | 1.0 | D | 0.823 | deleterious | D | 0.711769251 | None | None | N |
| D/I | 0.9303 | likely_pathogenic | 0.9565 | pathogenic | 1.63 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/K | 0.9751 | likely_pathogenic | 0.9825 | pathogenic | 0.093 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/L | 0.9475 | likely_pathogenic | 0.9631 | pathogenic | 1.63 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/M | 0.97 | likely_pathogenic | 0.9807 | pathogenic | 1.959 | Stabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| D/N | 0.5417 | ambiguous | 0.6314 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.708376316 | None | None | N |
| D/P | 0.9944 | likely_pathogenic | 0.9963 | pathogenic | 1.245 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/Q | 0.9426 | likely_pathogenic | 0.9596 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| D/R | 0.9817 | likely_pathogenic | 0.9879 | pathogenic | 0.124 | Stabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| D/S | 0.7795 | likely_pathogenic | 0.8483 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/T | 0.9182 | likely_pathogenic | 0.9479 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| D/V | 0.8401 | likely_pathogenic | 0.8928 | pathogenic | 1.245 | Stabilizing | 1.0 | D | 0.861 | deleterious | D | 0.789406642 | None | None | N |
| D/W | 0.9922 | likely_pathogenic | 0.9953 | pathogenic | 1.123 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/Y | 0.7243 | likely_pathogenic | 0.7996 | pathogenic | 1.339 | Stabilizing | 1.0 | D | 0.859 | deleterious | D | 0.823129246 | 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.