Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19504 | 58735;58736;58737 | chr2:178593790;178593789;178593788 | chr2:179458517;179458516;179458515 |
| N2AB | 17863 | 53812;53813;53814 | chr2:178593790;178593789;178593788 | chr2:179458517;179458516;179458515 |
| N2A | 16936 | 51031;51032;51033 | chr2:178593790;178593789;178593788 | chr2:179458517;179458516;179458515 |
| N2B | 10439 | 31540;31541;31542 | chr2:178593790;178593789;178593788 | chr2:179458517;179458516;179458515 |
| Novex-1 | 10564 | 31915;31916;31917 | chr2:178593790;178593789;178593788 | chr2:179458517;179458516;179458515 |
| Novex-2 | 10631 | 32116;32117;32118 | chr2:178593790;178593789;178593788 | chr2:179458517;179458516;179458515 |
| 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/L | rs1454300536  |
-0.755 | 1.0 | D | 0.892 | 0.616 | 0.805501000142 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1454300536 |
-0.755 | 1.0 | D | 0.892 | 0.616 | 0.805501000142 | gnomAD-4.0.0 | 6.84479E-07 | None | None | None | None | N | None | 0 | 2.23964E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | None | None | 1.0 | D | 0.882 | 0.635 | 0.678699861113 | gnomAD-4.0.0 | 6.84479E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99591E-07 | 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 | 0.8152 | likely_pathogenic | 0.8105 | pathogenic | -1.828 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.600402364 | None | None | N |
| P/C | 0.9791 | likely_pathogenic | 0.9801 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/D | 0.998 | likely_pathogenic | 0.998 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/E | 0.9957 | likely_pathogenic | 0.9959 | pathogenic | -1.896 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/F | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/G | 0.9879 | likely_pathogenic | 0.9887 | pathogenic | -2.25 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/H | 0.9935 | likely_pathogenic | 0.9926 | pathogenic | -1.867 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.633046498 | None | None | N |
| P/I | 0.9848 | likely_pathogenic | 0.9877 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/K | 0.998 | likely_pathogenic | 0.9978 | pathogenic | -1.675 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/L | 0.951 | likely_pathogenic | 0.9495 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.606499365 | None | None | N |
| P/M | 0.9931 | likely_pathogenic | 0.994 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/N | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | -1.606 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/Q | 0.9926 | likely_pathogenic | 0.9928 | pathogenic | -1.646 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/R | 0.992 | likely_pathogenic | 0.9904 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.600805972 | None | None | N |
| P/S | 0.9609 | likely_pathogenic | 0.9579 | pathogenic | -2.154 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.548226038 | None | None | N |
| P/T | 0.9588 | likely_pathogenic | 0.965 | pathogenic | -1.939 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.600604168 | None | None | N |
| P/V | 0.9511 | likely_pathogenic | 0.9598 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.564 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.24 | Destabilizing | 1.0 | D | 0.881 | 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.