Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30807 | 92644;92645;92646 | chr2:178549207;178549206;178549205 | chr2:179413934;179413933;179413932 |
| N2AB | 29166 | 87721;87722;87723 | chr2:178549207;178549206;178549205 | chr2:179413934;179413933;179413932 |
| N2A | 28239 | 84940;84941;84942 | chr2:178549207;178549206;178549205 | chr2:179413934;179413933;179413932 |
| N2B | 21742 | 65449;65450;65451 | chr2:178549207;178549206;178549205 | chr2:179413934;179413933;179413932 |
| Novex-1 | 21867 | 65824;65825;65826 | chr2:178549207;178549206;178549205 | chr2:179413934;179413933;179413932 |
| Novex-2 | 21934 | 66025;66026;66027 | chr2:178549207;178549206;178549205 | chr2:179413934;179413933;179413932 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1698363944  |
None | 0.999 | D | 0.884 | 0.545 | 0.443388199986 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06697E-04 | 0 |
| S/N | rs1698363944 |
None | 0.999 | D | 0.884 | 0.545 | 0.443388199986 | gnomAD-4.0.0 | 6.57056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.06697E-04 | 0 |
| S/R | rs748024667 |
-0.998 | 1.0 | D | 0.853 | 0.676 | 0.470401675101 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| S/T | None | None | 0.999 | D | 0.875 | 0.552 | 0.381580015636 | gnomAD-4.0.0 | 6.00162E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3233 | likely_benign | 0.2944 | benign | -0.633 | Destabilizing | 0.998 | D | 0.827 | deleterious | None | None | None | None | N |
| S/C | 0.481 | ambiguous | 0.3979 | ambiguous | -0.586 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.583186861 | None | None | N |
| S/D | 0.9803 | likely_pathogenic | 0.9839 | pathogenic | -1.353 | Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| S/E | 0.9876 | likely_pathogenic | 0.9893 | pathogenic | -1.261 | Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
| S/F | 0.9828 | likely_pathogenic | 0.9842 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| S/G | 0.3338 | likely_benign | 0.2937 | benign | -0.967 | Destabilizing | 0.999 | D | 0.861 | deleterious | D | 0.538215711 | None | None | N |
| S/H | 0.974 | likely_pathogenic | 0.9747 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| S/I | 0.965 | likely_pathogenic | 0.9681 | pathogenic | 0.176 | Stabilizing | 1.0 | D | 0.879 | deleterious | D | 0.582679881 | None | None | N |
| S/K | 0.9968 | likely_pathogenic | 0.9969 | pathogenic | -0.911 | Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
| S/L | 0.8655 | likely_pathogenic | 0.8544 | pathogenic | 0.176 | Stabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| S/M | 0.937 | likely_pathogenic | 0.9363 | pathogenic | 0.271 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| S/N | 0.935 | likely_pathogenic | 0.9367 | pathogenic | -1.221 | Destabilizing | 0.999 | D | 0.884 | deleterious | D | 0.571070087 | None | None | N |
| S/P | 0.9563 | likely_pathogenic | 0.9579 | pathogenic | -0.058 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| S/Q | 0.9833 | likely_pathogenic | 0.9838 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| S/R | 0.9923 | likely_pathogenic | 0.9923 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.558953313 | None | None | N |
| S/T | 0.4099 | ambiguous | 0.4409 | ambiguous | -0.963 | Destabilizing | 0.999 | D | 0.875 | deleterious | D | 0.539074631 | None | None | N |
| S/V | 0.9102 | likely_pathogenic | 0.9154 | pathogenic | -0.058 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| S/W | 0.9813 | likely_pathogenic | 0.9856 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| S/Y | 0.971 | likely_pathogenic | 0.9741 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.902 | 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.