Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27221 | 81886;81887;81888 | chr2:178564471;178564470;178564469 | chr2:179429198;179429197;179429196 |
| N2AB | 25580 | 76963;76964;76965 | chr2:178564471;178564470;178564469 | chr2:179429198;179429197;179429196 |
| N2A | 24653 | 74182;74183;74184 | chr2:178564471;178564470;178564469 | chr2:179429198;179429197;179429196 |
| N2B | 18156 | 54691;54692;54693 | chr2:178564471;178564470;178564469 | chr2:179429198;179429197;179429196 |
| Novex-1 | 18281 | 55066;55067;55068 | chr2:178564471;178564470;178564469 | chr2:179429198;179429197;179429196 |
| Novex-2 | 18348 | 55267;55268;55269 | chr2:178564471;178564470;178564469 | chr2:179429198;179429197;179429196 |
| 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/R | rs1399668147  |
-0.132 | 1.0 | N | 0.776 | 0.461 | 0.344710718752 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| S/R | rs1399668147 |
-0.132 | 1.0 | N | 0.776 | 0.461 | 0.344710718752 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | rs1399668147 |
-0.132 | 1.0 | N | 0.776 | 0.461 | 0.344710718752 | gnomAD-4.0.0 | 6.57333E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47033E-05 | 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 | 0.4012 | ambiguous | 0.3567 | ambiguous | -0.659 | Destabilizing | 0.998 | D | 0.56 | neutral | None | None | None | None | N |
| S/C | 0.325 | likely_benign | 0.3109 | benign | -0.129 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.47282727 | None | None | N |
| S/D | 0.9449 | likely_pathogenic | 0.936 | pathogenic | 0.299 | Stabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| S/E | 0.9905 | likely_pathogenic | 0.9896 | pathogenic | 0.42 | Stabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/F | 0.9711 | likely_pathogenic | 0.9595 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| S/G | 0.3272 | likely_benign | 0.2931 | benign | -0.997 | Destabilizing | 0.999 | D | 0.625 | neutral | N | 0.466842047 | None | None | N |
| S/H | 0.935 | likely_pathogenic | 0.9304 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| S/I | 0.8634 | likely_pathogenic | 0.8089 | pathogenic | 0.172 | Stabilizing | 1.0 | D | 0.773 | deleterious | N | 0.51532664 | None | None | N |
| S/K | 0.9981 | likely_pathogenic | 0.9977 | pathogenic | 0.264 | Stabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
| S/L | 0.7292 | likely_pathogenic | 0.6638 | pathogenic | 0.172 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| S/M | 0.8314 | likely_pathogenic | 0.7993 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| S/N | 0.3116 | likely_benign | 0.2996 | benign | -0.059 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | N | 0.370718222 | None | None | N |
| S/P | 0.9809 | likely_pathogenic | 0.9731 | pathogenic | -0.071 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| S/Q | 0.9802 | likely_pathogenic | 0.979 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| S/R | 0.996 | likely_pathogenic | 0.9949 | pathogenic | -0.021 | Destabilizing | 1.0 | D | 0.776 | deleterious | N | 0.521924539 | None | None | N |
| S/T | 0.2843 | likely_benign | 0.2387 | benign | -0.032 | Destabilizing | 0.999 | D | 0.612 | neutral | N | 0.476882895 | None | None | N |
| S/V | 0.8111 | likely_pathogenic | 0.7548 | pathogenic | -0.071 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| S/W | 0.9781 | likely_pathogenic | 0.9735 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| S/Y | 0.9322 | likely_pathogenic | 0.9197 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.788 | 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.