Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24909 | 74950;74951;74952 | chr2:178571407;178571406;178571405 | chr2:179436134;179436133;179436132 |
| N2AB | 23268 | 70027;70028;70029 | chr2:178571407;178571406;178571405 | chr2:179436134;179436133;179436132 |
| N2A | 22341 | 67246;67247;67248 | chr2:178571407;178571406;178571405 | chr2:179436134;179436133;179436132 |
| N2B | 15844 | 47755;47756;47757 | chr2:178571407;178571406;178571405 | chr2:179436134;179436133;179436132 |
| Novex-1 | 15969 | 48130;48131;48132 | chr2:178571407;178571406;178571405 | chr2:179436134;179436133;179436132 |
| Novex-2 | 16036 | 48331;48332;48333 | chr2:178571407;178571406;178571405 | chr2:179436134;179436133;179436132 |
| 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/H | None | None | 1.0 | D | 0.802 | 0.575 | 0.7457264781 | gnomAD-4.0.0 | 1.59197E-06 | None | None | None | None | N | None | 5.66123E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | None | None | 1.0 | D | 0.884 | 0.562 | 0.82707006007 | gnomAD-4.0.0 | 1.59197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-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 | 0.8553 | likely_pathogenic | 0.8211 | pathogenic | -1.533 | Destabilizing | 0.999 | D | 0.819 | deleterious | D | 0.53237809 | None | None | N |
| P/C | 0.9857 | likely_pathogenic | 0.9814 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -3.155 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/E | 0.9978 | likely_pathogenic | 0.9972 | pathogenic | -3.095 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/G | 0.9935 | likely_pathogenic | 0.9927 | pathogenic | -1.849 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/H | 0.9967 | likely_pathogenic | 0.9961 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.560143584 | None | None | N |
| P/I | 0.9895 | likely_pathogenic | 0.9876 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/K | 0.9982 | likely_pathogenic | 0.9979 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/L | 0.9614 | likely_pathogenic | 0.9488 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.557608689 | None | None | N |
| P/M | 0.9957 | likely_pathogenic | 0.9946 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/N | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/Q | 0.9956 | likely_pathogenic | 0.9949 | pathogenic | -1.917 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/R | 0.9921 | likely_pathogenic | 0.9901 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.559383115 | None | None | N |
| P/S | 0.9827 | likely_pathogenic | 0.9796 | pathogenic | -2.085 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.54777332 | None | None | N |
| P/T | 0.9772 | likely_pathogenic | 0.9741 | pathogenic | -1.922 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.547519831 | None | None | N |
| P/V | 0.9711 | likely_pathogenic | 0.9677 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.426 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.877 | 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.