Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32769 | 98530;98531;98532 | chr2:178539760;178539759;178539758 | chr2:179404487;179404486;179404485 |
| N2AB | 31128 | 93607;93608;93609 | chr2:178539760;178539759;178539758 | chr2:179404487;179404486;179404485 |
| N2A | 30201 | 90826;90827;90828 | chr2:178539760;178539759;178539758 | chr2:179404487;179404486;179404485 |
| N2B | 23704 | 71335;71336;71337 | chr2:178539760;178539759;178539758 | chr2:179404487;179404486;179404485 |
| Novex-1 | 23829 | 71710;71711;71712 | chr2:178539760;178539759;178539758 | chr2:179404487;179404486;179404485 |
| Novex-2 | 23896 | 71911;71912;71913 | chr2:178539760;178539759;178539758 | chr2:179404487;179404486;179404485 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/Y | rs564151542  |
-0.124 | 1.0 | D | 0.823 | 0.526 | 0.855879272531 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/Y | rs564151542 |
-0.124 | 1.0 | D | 0.823 | 0.526 | 0.855879272531 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs564151542 |
-0.124 | 1.0 | D | 0.823 | 0.526 | 0.855879272531 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/Y | rs564151542 |
-0.124 | 1.0 | D | 0.823 | 0.526 | 0.855879272531 | gnomAD-4.0.0 | 6.56711E-06 | None | None | None | None | N | None | 0 | 6.54022E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9815 | likely_pathogenic | 0.9701 | pathogenic | 0.197 | Stabilizing | 1.0 | D | 0.805 | deleterious | D | 0.629710446 | None | None | N |
| D/C | 0.9882 | likely_pathogenic | 0.9823 | pathogenic | 0.195 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| D/E | 0.9621 | likely_pathogenic | 0.9442 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.611 | neutral | D | 0.596228734 | None | None | N |
| D/F | 0.9909 | likely_pathogenic | 0.9879 | pathogenic | 0.852 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/G | 0.9861 | likely_pathogenic | 0.9775 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.62991225 | None | None | N |
| D/H | 0.9484 | likely_pathogenic | 0.9321 | pathogenic | 0.543 | Stabilizing | 1.0 | D | 0.803 | deleterious | D | 0.552571061 | None | None | N |
| D/I | 0.9911 | likely_pathogenic | 0.9878 | pathogenic | 1.372 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| D/K | 0.9943 | likely_pathogenic | 0.9916 | pathogenic | 0.314 | Stabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| D/L | 0.9918 | likely_pathogenic | 0.9888 | pathogenic | 1.372 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/M | 0.9963 | likely_pathogenic | 0.9942 | pathogenic | 1.726 | Stabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| D/N | 0.8441 | likely_pathogenic | 0.8114 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.582823905 | None | None | N |
| D/P | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | 1.01 | Stabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| D/Q | 0.9913 | likely_pathogenic | 0.9852 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/R | 0.9958 | likely_pathogenic | 0.9934 | pathogenic | 0.352 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/S | 0.9531 | likely_pathogenic | 0.931 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| D/T | 0.9897 | likely_pathogenic | 0.9847 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| D/V | 0.979 | likely_pathogenic | 0.9706 | pathogenic | 1.01 | Stabilizing | 1.0 | D | 0.813 | deleterious | D | 0.630315859 | None | None | N |
| D/W | 0.9982 | likely_pathogenic | 0.9974 | pathogenic | 0.985 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/Y | 0.9469 | likely_pathogenic | 0.9313 | pathogenic | 1.148 | Stabilizing | 1.0 | D | 0.823 | deleterious | D | 0.604575943 | 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.