Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26092 | 78499;78500;78501 | chr2:178567858;178567857;178567856 | chr2:179432585;179432584;179432583 |
| N2AB | 24451 | 73576;73577;73578 | chr2:178567858;178567857;178567856 | chr2:179432585;179432584;179432583 |
| N2A | 23524 | 70795;70796;70797 | chr2:178567858;178567857;178567856 | chr2:179432585;179432584;179432583 |
| N2B | 17027 | 51304;51305;51306 | chr2:178567858;178567857;178567856 | chr2:179432585;179432584;179432583 |
| Novex-1 | 17152 | 51679;51680;51681 | chr2:178567858;178567857;178567856 | chr2:179432585;179432584;179432583 |
| Novex-2 | 17219 | 51880;51881;51882 | chr2:178567858;178567857;178567856 | chr2:179432585;179432584;179432583 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs745927210  |
-1.65 | 1.0 | D | 0.905 | 0.75 | 0.706045716637 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/R | rs745927210 |
-1.65 | 1.0 | D | 0.905 | 0.75 | 0.706045716637 | gnomAD-4.0.0 | 4.7754E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71876E-06 | 1.43287E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8393 | likely_pathogenic | 0.8326 | pathogenic | -2.233 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.550194354 | None | None | N |
| P/C | 0.9886 | likely_pathogenic | 0.9893 | pathogenic | -2.419 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -3.304 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| P/E | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -3.082 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/G | 0.9935 | likely_pathogenic | 0.9945 | pathogenic | -2.732 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/H | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -2.363 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/I | 0.9899 | likely_pathogenic | 0.9893 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/K | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.8 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/L | 0.9645 | likely_pathogenic | 0.9617 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.582123677 | None | None | N |
| P/M | 0.9962 | likely_pathogenic | 0.9961 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/N | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.284 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/Q | 0.9978 | likely_pathogenic | 0.9975 | pathogenic | -2.131 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.582884146 | None | None | N |
| P/R | 0.9963 | likely_pathogenic | 0.9959 | pathogenic | -1.654 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.582884146 | None | None | N |
| P/S | 0.9873 | likely_pathogenic | 0.9875 | pathogenic | -2.823 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.571274351 | None | None | N |
| P/T | 0.9807 | likely_pathogenic | 0.9797 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.564526401 | None | None | N |
| P/V | 0.9648 | likely_pathogenic | 0.961 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.733 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.905 | 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.