Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19480 | 58663;58664;58665 | chr2:178593862;178593861;178593860 | chr2:179458589;179458588;179458587 |
| N2AB | 17839 | 53740;53741;53742 | chr2:178593862;178593861;178593860 | chr2:179458589;179458588;179458587 |
| N2A | 16912 | 50959;50960;50961 | chr2:178593862;178593861;178593860 | chr2:179458589;179458588;179458587 |
| N2B | 10415 | 31468;31469;31470 | chr2:178593862;178593861;178593860 | chr2:179458589;179458588;179458587 |
| Novex-1 | 10540 | 31843;31844;31845 | chr2:178593862;178593861;178593860 | chr2:179458589;179458588;179458587 |
| Novex-2 | 10607 | 32044;32045;32046 | chr2:178593862;178593861;178593860 | chr2:179458589;179458588;179458587 |
| 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/S | None | None | 1.0 | D | 0.769 | 0.479 | 0.531531992086 | gnomAD-4.0.0 | 3.19982E-06 | None | None | None | None | N | None | 0 | 4.64188E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9397 | likely_pathogenic | 0.9314 | pathogenic | -1.471 | Destabilizing | 0.999 | D | 0.8 | deleterious | N | 0.507817557 | None | None | N |
| P/C | 0.9936 | likely_pathogenic | 0.9937 | pathogenic | -2.086 | Highly Destabilizing | 1.0 | D | 0.736 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -3.346 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| P/E | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -3.285 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/G | 0.9957 | likely_pathogenic | 0.9953 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/H | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.737 | deleterious | D | 0.535583051 | None | None | N |
| P/I | 0.9931 | likely_pathogenic | 0.9925 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| P/K | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -1.535 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| P/L | 0.9776 | likely_pathogenic | 0.9752 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.524226746 | None | None | N |
| P/M | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.735 | deleterious | None | None | None | None | N |
| P/N | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.89 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| P/Q | 0.9973 | likely_pathogenic | 0.9969 | pathogenic | -2.055 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/R | 0.9939 | likely_pathogenic | 0.9935 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.523466277 | None | None | N |
| P/S | 0.9936 | likely_pathogenic | 0.9927 | pathogenic | -2.194 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.533808624 | None | None | N |
| P/T | 0.9896 | likely_pathogenic | 0.9886 | pathogenic | -2.031 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.534822582 | None | None | N |
| P/V | 0.9832 | likely_pathogenic | 0.9811 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.449 | Destabilizing | 1.0 | D | 0.706 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.783 | 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.