Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17740 | 53443;53444;53445 | chr2:178607470;178607469;178607468 | chr2:179472197;179472196;179472195 |
| N2AB | 16099 | 48520;48521;48522 | chr2:178607470;178607469;178607468 | chr2:179472197;179472196;179472195 |
| N2A | 15172 | 45739;45740;45741 | chr2:178607470;178607469;178607468 | chr2:179472197;179472196;179472195 |
| N2B | 8675 | 26248;26249;26250 | chr2:178607470;178607469;178607468 | chr2:179472197;179472196;179472195 |
| Novex-1 | 8800 | 26623;26624;26625 | chr2:178607470;178607469;178607468 | chr2:179472197;179472196;179472195 |
| Novex-2 | 8867 | 26824;26825;26826 | chr2:178607470;178607469;178607468 | chr2:179472197;179472196;179472195 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1219250375  |
-1.349 | 1.0 | D | 0.805 | 0.68 | 0.614488361678 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1219250375 |
-1.349 | 1.0 | D | 0.805 | 0.68 | 0.614488361678 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1219250375 |
-1.349 | 1.0 | D | 0.805 | 0.68 | 0.614488361678 | gnomAD-4.0.0 | 3.84626E-06 | None | None | None | None | I | None | 0 | 5.08716E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7695 | likely_pathogenic | 0.8634 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.574933896 | None | None | I |
| G/C | 0.9021 | likely_pathogenic | 0.9587 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.647408552 | None | None | I |
| G/D | 0.969 | likely_pathogenic | 0.9837 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.621466831 | None | None | I |
| G/E | 0.9824 | likely_pathogenic | 0.9927 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/F | 0.9914 | likely_pathogenic | 0.9956 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| G/H | 0.9908 | likely_pathogenic | 0.9963 | pathogenic | -1.788 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/I | 0.9912 | likely_pathogenic | 0.9965 | pathogenic | -0.088 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| G/K | 0.9907 | likely_pathogenic | 0.9962 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/L | 0.9846 | likely_pathogenic | 0.992 | pathogenic | -0.088 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| G/M | 0.9924 | likely_pathogenic | 0.9964 | pathogenic | 0.022 | Stabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| G/N | 0.9825 | likely_pathogenic | 0.9913 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9996 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/Q | 0.976 | likely_pathogenic | 0.9883 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/R | 0.9707 | likely_pathogenic | 0.9871 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.647206747 | None | None | I |
| G/S | 0.7232 | likely_pathogenic | 0.8516 | pathogenic | -1.458 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.614532252 | None | None | I |
| G/T | 0.9595 | likely_pathogenic | 0.9833 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/V | 0.9799 | likely_pathogenic | 0.9919 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.647408552 | None | None | I |
| G/W | 0.9893 | likely_pathogenic | 0.9953 | pathogenic | -1.55 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9921 | likely_pathogenic | 0.9966 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
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.