Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30401 | 91426;91427;91428 | chr2:178551699;178551698;178551697 | chr2:179416426;179416425;179416424 |
| N2AB | 28760 | 86503;86504;86505 | chr2:178551699;178551698;178551697 | chr2:179416426;179416425;179416424 |
| N2A | 27833 | 83722;83723;83724 | chr2:178551699;178551698;178551697 | chr2:179416426;179416425;179416424 |
| N2B | 21336 | 64231;64232;64233 | chr2:178551699;178551698;178551697 | chr2:179416426;179416425;179416424 |
| Novex-1 | 21461 | 64606;64607;64608 | chr2:178551699;178551698;178551697 | chr2:179416426;179416425;179416424 |
| Novex-2 | 21528 | 64807;64808;64809 | chr2:178551699;178551698;178551697 | chr2:179416426;179416425;179416424 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs775741044  |
-1.942 | 1.0 | D | 0.805 | 0.721 | 0.569243600337 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 6.57895E-03 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| A/T | rs775741044 |
-1.942 | 1.0 | D | 0.805 | 0.721 | 0.569243600337 | gnomAD-4.0.0 | 5.57935E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.19761E-05 | 1.60179E-05 |
| A/V | None | None | 1.0 | D | 0.721 | 0.671 | 0.732724583431 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.713 | likely_pathogenic | 0.7642 | pathogenic | -1.864 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| A/D | 0.9976 | likely_pathogenic | 0.9972 | pathogenic | -2.876 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.568117118 | None | None | N |
| A/E | 0.9952 | likely_pathogenic | 0.9944 | pathogenic | -2.642 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/F | 0.9882 | likely_pathogenic | 0.9892 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/G | 0.4073 | ambiguous | 0.4137 | ambiguous | -2.372 | Highly Destabilizing | 1.0 | D | 0.647 | neutral | D | 0.534920348 | None | None | N |
| A/H | 0.9965 | likely_pathogenic | 0.9958 | pathogenic | -2.16 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/I | 0.9454 | likely_pathogenic | 0.9599 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| A/K | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/L | 0.8993 | likely_pathogenic | 0.9089 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/M | 0.9351 | likely_pathogenic | 0.945 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/N | 0.9921 | likely_pathogenic | 0.9921 | pathogenic | -1.969 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/P | 0.9885 | likely_pathogenic | 0.9913 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.556760812 | None | None | N |
| A/Q | 0.9865 | likely_pathogenic | 0.9838 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/R | 0.993 | likely_pathogenic | 0.9913 | pathogenic | -1.575 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/S | 0.2655 | likely_benign | 0.2616 | benign | -2.316 | Highly Destabilizing | 1.0 | D | 0.637 | neutral | N | 0.510673573 | None | None | N |
| A/T | 0.6498 | likely_pathogenic | 0.6683 | pathogenic | -1.975 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.55270498 | None | None | N |
| A/V | 0.7377 | likely_pathogenic | 0.7848 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.543123101 | None | None | N |
| A/W | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -1.369 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/Y | 0.9955 | likely_pathogenic | 0.9953 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.88 | 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.