Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22668 | 68227;68228;68229 | chr2:178579028;178579027;178579026 | chr2:179443755;179443754;179443753 |
| N2AB | 21027 | 63304;63305;63306 | chr2:178579028;178579027;178579026 | chr2:179443755;179443754;179443753 |
| N2A | 20100 | 60523;60524;60525 | chr2:178579028;178579027;178579026 | chr2:179443755;179443754;179443753 |
| N2B | 13603 | 41032;41033;41034 | chr2:178579028;178579027;178579026 | chr2:179443755;179443754;179443753 |
| Novex-1 | 13728 | 41407;41408;41409 | chr2:178579028;178579027;178579026 | chr2:179443755;179443754;179443753 |
| Novex-2 | 13795 | 41608;41609;41610 | chr2:178579028;178579027;178579026 | chr2:179443755;179443754;179443753 |
| 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/Q | rs879160608  |
-1.922 | 1.0 | D | 0.85 | 0.598 | 0.680344662427 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| P/Q | rs879160608 |
-1.922 | 1.0 | D | 0.85 | 0.598 | 0.680344662427 | gnomAD-4.0.0 | 1.36887E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7993E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8796 | likely_pathogenic | 0.8752 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.505461971 | None | None | N |
| P/C | 0.9847 | likely_pathogenic | 0.988 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.392 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/E | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -2.315 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.436 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/G | 0.99 | likely_pathogenic | 0.9915 | pathogenic | -2.358 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/H | 0.9966 | likely_pathogenic | 0.9967 | pathogenic | -2.115 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/I | 0.9935 | likely_pathogenic | 0.9938 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/K | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -1.742 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/L | 0.9702 | likely_pathogenic | 0.9709 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.532845389 | None | None | N |
| P/M | 0.996 | likely_pathogenic | 0.9961 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/N | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -1.685 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/Q | 0.9949 | likely_pathogenic | 0.9947 | pathogenic | -1.755 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.534619816 | None | None | N |
| P/R | 0.994 | likely_pathogenic | 0.9946 | pathogenic | -1.303 | Destabilizing | 1.0 | D | 0.895 | deleterious | N | 0.513793309 | None | None | N |
| P/S | 0.9757 | likely_pathogenic | 0.9774 | pathogenic | -2.196 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | N | 0.487762563 | None | None | N |
| P/T | 0.9739 | likely_pathogenic | 0.979 | pathogenic | -2.004 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.518717607 | None | None | N |
| P/V | 0.974 | likely_pathogenic | 0.9746 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.828 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.891 | 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.