Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17269 | 52030;52031;52032 | chr2:178609505;178609504;178609503 | chr2:179474232;179474231;179474230 |
| N2AB | 15628 | 47107;47108;47109 | chr2:178609505;178609504;178609503 | chr2:179474232;179474231;179474230 |
| N2A | 14701 | 44326;44327;44328 | chr2:178609505;178609504;178609503 | chr2:179474232;179474231;179474230 |
| N2B | 8204 | 24835;24836;24837 | chr2:178609505;178609504;178609503 | chr2:179474232;179474231;179474230 |
| Novex-1 | 8329 | 25210;25211;25212 | chr2:178609505;178609504;178609503 | chr2:179474232;179474231;179474230 |
| Novex-2 | 8396 | 25411;25412;25413 | chr2:178609505;178609504;178609503 | chr2:179474232;179474231;179474230 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs778693629  |
None | 1.0 | N | 0.883 | 0.413 | None | gnomAD-4.0.0 | 3.42358E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59976E-06 | 0 | 1.65859E-05 |
| A/S | rs778693629 |
-1.797 | 1.0 | N | 0.656 | 0.217 | None | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 2.81928E-04 |
| A/S | rs778693629 |
-1.797 | 1.0 | N | 0.656 | 0.217 | None | gnomAD-3.1.2 | 5.27E-05 | None | None | None | None | N | None | 2.42E-05 | 3.28213E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 9.56023E-04 |
| A/S | rs778693629 |
-1.797 | 1.0 | N | 0.656 | 0.217 | None | gnomAD-4.0.0 | 1.05434E-05 | None | None | None | None | N | None | 2.6738E-05 | 1.16834E-04 | None | 0 | 0 | None | 0 | 0 | 8.48089E-07 | 0 | 1.12208E-04 |
| A/T | None | None | 1.0 | N | 0.847 | 0.342 | 0.319402600006 | 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 |
| A/T | None | None | 1.0 | N | 0.847 | 0.342 | 0.319402600006 | gnomAD-4.0.0 | 1.2404E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69618E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7113 | likely_pathogenic | 0.719 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| A/D | 0.9942 | likely_pathogenic | 0.9941 | pathogenic | -1.805 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| A/E | 0.9947 | likely_pathogenic | 0.9942 | pathogenic | -1.673 | Destabilizing | 1.0 | D | 0.881 | deleterious | N | 0.477381221 | None | None | N |
| A/F | 0.9406 | likely_pathogenic | 0.9393 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.939 | deleterious | None | None | None | None | N |
| A/G | 0.3362 | likely_benign | 0.3309 | benign | -1.513 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.465771426 | None | None | N |
| A/H | 0.994 | likely_pathogenic | 0.9939 | pathogenic | -1.806 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| A/I | 0.8318 | likely_pathogenic | 0.8367 | pathogenic | 0.05 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/K | 0.9977 | likely_pathogenic | 0.9972 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| A/L | 0.8013 | likely_pathogenic | 0.8006 | pathogenic | 0.05 | Stabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| A/M | 0.891 | likely_pathogenic | 0.8986 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| A/N | 0.9864 | likely_pathogenic | 0.9875 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| A/P | 0.9817 | likely_pathogenic | 0.9811 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.883 | deleterious | N | 0.477381221 | None | None | N |
| A/Q | 0.9893 | likely_pathogenic | 0.9884 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| A/R | 0.9917 | likely_pathogenic | 0.9898 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/S | 0.3983 | ambiguous | 0.4365 | ambiguous | -1.842 | Destabilizing | 1.0 | D | 0.656 | neutral | N | 0.465517937 | None | None | N |
| A/T | 0.5345 | ambiguous | 0.5727 | pathogenic | -1.575 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.458516498 | None | None | N |
| A/V | 0.5476 | ambiguous | 0.5546 | ambiguous | -0.28 | Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.449722432 | None | None | N |
| A/W | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| A/Y | 0.9873 | likely_pathogenic | 0.986 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.945 | 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.