Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15704 | 47335;47336;47337 | chr2:178618348;178618347;178618346 | chr2:179483075;179483074;179483073 |
| N2AB | 14063 | 42412;42413;42414 | chr2:178618348;178618347;178618346 | chr2:179483075;179483074;179483073 |
| N2A | 13136 | 39631;39632;39633 | chr2:178618348;178618347;178618346 | chr2:179483075;179483074;179483073 |
| N2B | 6639 | 20140;20141;20142 | chr2:178618348;178618347;178618346 | chr2:179483075;179483074;179483073 |
| Novex-1 | 6764 | 20515;20516;20517 | chr2:178618348;178618347;178618346 | chr2:179483075;179483074;179483073 |
| Novex-2 | 6831 | 20716;20717;20718 | chr2:178618348;178618347;178618346 | chr2:179483075;179483074;179483073 |
| 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/S | rs2154209513  |
None | 1.0 | D | 0.769 | 0.484 | 0.824393133286 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9944 | likely_pathogenic | 0.9944 | pathogenic | -3.122 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| W/C | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.688475587 | None | None | N |
| W/D | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.78 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.721 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| W/F | 0.7113 | likely_pathogenic | 0.7131 | pathogenic | -1.992 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| W/G | 0.9837 | likely_pathogenic | 0.9825 | pathogenic | -3.302 | Highly Destabilizing | 1.0 | D | 0.677 | prob.neutral | D | 0.698412217 | None | None | N |
| W/H | 0.9961 | likely_pathogenic | 0.9961 | pathogenic | -1.55 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| W/I | 0.9962 | likely_pathogenic | 0.9963 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| W/L | 0.9851 | likely_pathogenic | 0.9867 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.677 | prob.neutral | D | 0.733674398 | None | None | N |
| W/M | 0.9949 | likely_pathogenic | 0.996 | pathogenic | -1.847 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| W/N | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| W/P | 0.997 | likely_pathogenic | 0.9967 | pathogenic | -2.698 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.852 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| W/R | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.68729145 | None | None | N |
| W/S | 0.9902 | likely_pathogenic | 0.9915 | pathogenic | -2.23 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.695585791 | None | None | N |
| W/T | 0.9956 | likely_pathogenic | 0.9956 | pathogenic | -2.127 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| W/V | 0.9928 | likely_pathogenic | 0.9932 | pathogenic | -2.698 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| W/Y | 0.8754 | likely_pathogenic | 0.8982 | pathogenic | -1.751 | Destabilizing | 1.0 | D | 0.599 | neutral | 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.