Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20641 | 62146;62147;62148 | chr2:178589804;178589803;178589802 | chr2:179454531;179454530;179454529 |
| N2AB | 19000 | 57223;57224;57225 | chr2:178589804;178589803;178589802 | chr2:179454531;179454530;179454529 |
| N2A | 18073 | 54442;54443;54444 | chr2:178589804;178589803;178589802 | chr2:179454531;179454530;179454529 |
| N2B | 11576 | 34951;34952;34953 | chr2:178589804;178589803;178589802 | chr2:179454531;179454530;179454529 |
| Novex-1 | 11701 | 35326;35327;35328 | chr2:178589804;178589803;178589802 | chr2:179454531;179454530;179454529 |
| Novex-2 | 11768 | 35527;35528;35529 | chr2:178589804;178589803;178589802 | chr2:179454531;179454530;179454529 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs199895260  |
-0.951 | 1.0 | N | 0.788 | 0.431 | None | gnomAD-2.1.1 | 2.77913E-03 | None | None | None | None | N | None | 3.30606E-04 | 9.90155E-04 | None | 5.12176E-03 | 0 | None | 3.26797E-04 | None | 4.7954E-03 | 4.17304E-03 | 2.52525E-03 |
| R/Q | rs199895260 |
-0.951 | 1.0 | N | 0.788 | 0.431 | None | gnomAD-3.1.2 | 2.39332E-03 | None | None | None | None | N | None | 4.58428E-04 | 2.75157E-03 | 0 | 2.88184E-03 | 0 | None | 3.95704E-03 | 3.16456E-03 | 3.54464E-03 | 6.21118E-04 | 2.87081E-03 |
| R/Q | rs199895260 |
-0.951 | 1.0 | N | 0.788 | 0.431 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 0 | 2.9E-03 | None | None | 0 | 2E-03 | None | None | None | 1E-03 | None |
| R/Q | rs199895260 |
-0.951 | 1.0 | N | 0.788 | 0.431 | None | gnomAD-4.0.0 | 2.76723E-03 | None | None | None | None | N | None | 4.3993E-04 | 1.51677E-03 | None | 3.54826E-03 | 8.92738E-05 | None | 4.2177E-03 | 3.46764E-03 | 3.16633E-03 | 4.50193E-04 | 2.64135E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9953 | likely_pathogenic | 0.994 | pathogenic | -1.549 | Destabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| R/C | 0.9255 | likely_pathogenic | 0.8925 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| R/D | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| R/E | 0.9929 | likely_pathogenic | 0.9915 | pathogenic | -0.693 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| R/F | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| R/G | 0.9932 | likely_pathogenic | 0.9931 | pathogenic | -1.86 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.544602861 | None | None | N |
| R/H | 0.8602 | likely_pathogenic | 0.8494 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| R/I | 0.9935 | likely_pathogenic | 0.9898 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| R/K | 0.7942 | likely_pathogenic | 0.7834 | pathogenic | -1.061 | Destabilizing | 0.998 | D | 0.662 | neutral | None | None | None | None | N |
| R/L | 0.9863 | likely_pathogenic | 0.982 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.526752095 | None | None | N |
| R/M | 0.9965 | likely_pathogenic | 0.9943 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| R/N | 0.9984 | likely_pathogenic | 0.9979 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| R/P | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.54510984 | None | None | N |
| R/Q | 0.8498 | likely_pathogenic | 0.8256 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.499124733 | None | None | N |
| R/S | 0.9967 | likely_pathogenic | 0.9961 | pathogenic | -1.779 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| R/T | 0.9966 | likely_pathogenic | 0.9951 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/V | 0.9939 | likely_pathogenic | 0.9907 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| R/W | 0.9837 | likely_pathogenic | 0.9773 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| R/Y | 0.9959 | likely_pathogenic | 0.9939 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.842 | 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.