Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32312 | 97159;97160;97161 | chr2:178542920;178542919;178542918 | chr2:179407647;179407646;179407645 |
| N2AB | 30671 | 92236;92237;92238 | chr2:178542920;178542919;178542918 | chr2:179407647;179407646;179407645 |
| N2A | 29744 | 89455;89456;89457 | chr2:178542920;178542919;178542918 | chr2:179407647;179407646;179407645 |
| N2B | 23247 | 69964;69965;69966 | chr2:178542920;178542919;178542918 | chr2:179407647;179407646;179407645 |
| Novex-1 | 23372 | 70339;70340;70341 | chr2:178542920;178542919;178542918 | chr2:179407647;179407646;179407645 |
| Novex-2 | 23439 | 70540;70541;70542 | chr2:178542920;178542919;178542918 | chr2:179407647;179407646;179407645 |
| 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 | None | None | 0.64 | N | 0.495 | 0.289 | 0.381071309025 | gnomAD-4.0.0 | 1.59811E-06 | None | None | None | None | N | None | 0 | 2.29074E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1024823449  |
-0.975 | 1.0 | N | 0.76 | 0.359 | 0.162503812791 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.56E-05 | None | 0 | 0 | 0 |
| P/S | rs1024823449 |
-0.975 | 1.0 | N | 0.76 | 0.359 | 0.162503812791 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1024823449 |
-0.975 | 1.0 | N | 0.76 | 0.359 | 0.162503812791 | gnomAD-4.0.0 | 5.58722E-06 | None | None | None | None | N | None | 9.35004E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.19901E-05 | 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 | 0.1508 | likely_benign | 0.1367 | benign | -0.349 | Destabilizing | 0.998 | D | 0.615 | neutral | N | 0.482664356 | None | None | N |
| P/C | 0.7647 | likely_pathogenic | 0.7211 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/D | 0.71 | likely_pathogenic | 0.6735 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/E | 0.5092 | ambiguous | 0.4705 | ambiguous | -0.401 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/F | 0.6748 | likely_pathogenic | 0.6047 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/G | 0.3953 | ambiguous | 0.3728 | ambiguous | -0.465 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| P/H | 0.3519 | ambiguous | 0.3053 | benign | -0.116 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.483011073 | None | None | N |
| P/I | 0.4713 | ambiguous | 0.396 | ambiguous | -0.194 | Destabilizing | 0.998 | D | 0.782 | deleterious | None | None | None | None | N |
| P/K | 0.5098 | ambiguous | 0.4433 | ambiguous | -0.36 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/L | 0.2119 | likely_benign | 0.1596 | benign | -0.194 | Destabilizing | 0.64 | D | 0.495 | neutral | N | 0.418479592 | None | None | N |
| P/M | 0.4564 | ambiguous | 0.3886 | ambiguous | -0.289 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/N | 0.523 | ambiguous | 0.4682 | ambiguous | -0.054 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/Q | 0.2591 | likely_benign | 0.246 | benign | -0.302 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/R | 0.3656 | ambiguous | 0.3108 | benign | 0.131 | Stabilizing | 1.0 | D | 0.81 | deleterious | N | 0.512120472 | None | None | N |
| P/S | 0.2344 | likely_benign | 0.2051 | benign | -0.383 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.493265352 | None | None | N |
| P/T | 0.1711 | likely_benign | 0.1483 | benign | -0.406 | Destabilizing | 0.999 | D | 0.746 | deleterious | N | 0.493091994 | None | None | N |
| P/V | 0.3164 | likely_benign | 0.2711 | benign | -0.211 | Destabilizing | 0.998 | D | 0.698 | prob.neutral | None | None | None | None | N |
| P/W | 0.7913 | likely_pathogenic | 0.7287 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| P/Y | 0.5968 | likely_pathogenic | 0.5374 | ambiguous | -0.433 | Destabilizing | 1.0 | D | 0.799 | 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.