Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22767 | 68524;68525;68526 | chr2:178578641;178578640;178578639 | chr2:179443368;179443367;179443366 |
| N2AB | 21126 | 63601;63602;63603 | chr2:178578641;178578640;178578639 | chr2:179443368;179443367;179443366 |
| N2A | 20199 | 60820;60821;60822 | chr2:178578641;178578640;178578639 | chr2:179443368;179443367;179443366 |
| N2B | 13702 | 41329;41330;41331 | chr2:178578641;178578640;178578639 | chr2:179443368;179443367;179443366 |
| Novex-1 | 13827 | 41704;41705;41706 | chr2:178578641;178578640;178578639 | chr2:179443368;179443367;179443366 |
| Novex-2 | 13894 | 41905;41906;41907 | chr2:178578641;178578640;178578639 | chr2:179443368;179443367;179443366 |
| 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 | rs775953148  |
-0.757 | 1.0 | D | 0.923 | 0.746 | 0.893768029906 | gnomAD-2.1.1 | 2.84E-05 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 4.47E-05 | 0 |
| P/L | rs775953148 |
-0.757 | 1.0 | D | 0.923 | 0.746 | 0.893768029906 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs775953148 |
-0.757 | 1.0 | D | 0.923 | 0.746 | 0.893768029906 | gnomAD-4.0.0 | 3.16422E-05 | None | None | None | None | N | None | 0 | 3.34303E-05 | None | 0 | 0 | None | 3.12832E-05 | 0 | 3.90163E-05 | 0 | 1.60364E-05 |
| P/R | None | None | 1.0 | D | 0.914 | 0.794 | 0.814162761347 | gnomAD-4.0.0 | 6.85012E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00075E-07 | 0 | 0 |
| P/T | rs1358490975 |
-2.333 | 1.0 | D | 0.883 | 0.719 | 0.747345648389 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.31E-05 | 0 | 0 |
| P/T | rs1358490975 |
-2.333 | 1.0 | D | 0.883 | 0.719 | 0.747345648389 | gnomAD-4.0.0 | 1.5955E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.8843E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7734 | likely_pathogenic | 0.7654 | pathogenic | -1.968 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.599009376 | None | None | N |
| P/C | 0.9534 | likely_pathogenic | 0.9486 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/D | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -2.208 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/E | 0.9948 | likely_pathogenic | 0.9959 | pathogenic | -2.137 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/F | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| P/G | 0.9728 | likely_pathogenic | 0.976 | pathogenic | -2.375 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/H | 0.9907 | likely_pathogenic | 0.9924 | pathogenic | -2.038 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.653244823 | None | None | N |
| P/I | 0.9853 | likely_pathogenic | 0.9863 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| P/K | 0.9969 | likely_pathogenic | 0.9976 | pathogenic | -1.702 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/L | 0.9558 | likely_pathogenic | 0.9623 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.635984276 | None | None | N |
| P/M | 0.9899 | likely_pathogenic | 0.9906 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/N | 0.9953 | likely_pathogenic | 0.9958 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| P/Q | 0.9892 | likely_pathogenic | 0.9901 | pathogenic | -1.662 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/R | 0.9889 | likely_pathogenic | 0.9911 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.914 | deleterious | D | 0.636791493 | None | None | N |
| P/S | 0.9285 | likely_pathogenic | 0.9283 | pathogenic | -2.108 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.572371161 | None | None | N |
| P/T | 0.909 | likely_pathogenic | 0.9049 | pathogenic | -1.926 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.604550967 | None | None | N |
| P/V | 0.9492 | likely_pathogenic | 0.9488 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.723 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.923 | 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.