Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17231 | 51916;51917;51918 | chr2:178609732;178609731;178609730 | chr2:179474459;179474458;179474457 |
| N2AB | 15590 | 46993;46994;46995 | chr2:178609732;178609731;178609730 | chr2:179474459;179474458;179474457 |
| N2A | 14663 | 44212;44213;44214 | chr2:178609732;178609731;178609730 | chr2:179474459;179474458;179474457 |
| N2B | 8166 | 24721;24722;24723 | chr2:178609732;178609731;178609730 | chr2:179474459;179474458;179474457 |
| Novex-1 | 8291 | 25096;25097;25098 | chr2:178609732;178609731;178609730 | chr2:179474459;179474458;179474457 |
| Novex-2 | 8358 | 25297;25298;25299 | chr2:178609732;178609731;178609730 | chr2:179474459;179474458;179474457 |
| 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 | rs944587802  |
None | 0.334 | D | 0.73 | 0.345 | 0.342865806769 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94704E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs944587802 |
None | 0.334 | D | 0.73 | 0.345 | 0.342865806769 | gnomAD-4.0.0 | 4.06015E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.14233E-04 | None | 0 | 0 | 2.41009E-06 | 0 | 3.40044E-05 |
| S/T | rs944587802 |
None | 0.334 | D | 0.706 | 0.374 | 0.332386209738 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.4627 | ambiguous | 0.4997 | ambiguous | -0.805 | Destabilizing | 0.121 | N | 0.682 | prob.neutral | None | None | None | None | N |
| S/C | 0.8276 | likely_pathogenic | 0.8491 | pathogenic | -0.812 | Destabilizing | 0.976 | D | 0.744 | deleterious | D | 0.545991532 | None | None | N |
| S/D | 0.9936 | likely_pathogenic | 0.9927 | pathogenic | -1.639 | Destabilizing | 0.399 | N | 0.741 | deleterious | None | None | None | None | N |
| S/E | 0.9978 | likely_pathogenic | 0.9975 | pathogenic | -1.511 | Destabilizing | 0.574 | D | 0.749 | deleterious | None | None | None | None | N |
| S/F | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -0.527 | Destabilizing | 0.935 | D | 0.791 | deleterious | None | None | None | None | N |
| S/G | 0.102 | likely_benign | 0.1017 | benign | -1.143 | Destabilizing | 0.001 | N | 0.447 | neutral | N | 0.494014714 | None | None | N |
| S/H | 0.9953 | likely_pathogenic | 0.9947 | pathogenic | -1.523 | Destabilizing | 0.982 | D | 0.746 | deleterious | None | None | None | None | N |
| S/I | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | 0.029 | Stabilizing | 0.781 | D | 0.801 | deleterious | D | 0.534381737 | None | None | N |
| S/K | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.873 | Destabilizing | 0.399 | N | 0.748 | deleterious | None | None | None | None | N |
| S/L | 0.9836 | likely_pathogenic | 0.9841 | pathogenic | 0.029 | Stabilizing | 0.826 | D | 0.781 | deleterious | None | None | None | None | N |
| S/M | 0.9919 | likely_pathogenic | 0.9924 | pathogenic | -0.046 | Destabilizing | 0.982 | D | 0.747 | deleterious | None | None | None | None | N |
| S/N | 0.9778 | likely_pathogenic | 0.9783 | pathogenic | -1.292 | Destabilizing | 0.334 | N | 0.73 | prob.delet. | D | 0.544977573 | None | None | N |
| S/P | 0.9965 | likely_pathogenic | 0.9957 | pathogenic | -0.216 | Destabilizing | 0.826 | D | 0.771 | deleterious | None | None | None | None | N |
| S/Q | 0.9959 | likely_pathogenic | 0.9955 | pathogenic | -1.181 | Destabilizing | 0.826 | D | 0.744 | deleterious | None | None | None | None | N |
| S/R | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -1.01 | Destabilizing | 0.781 | D | 0.77 | deleterious | D | 0.527126808 | None | None | N |
| S/T | 0.8487 | likely_pathogenic | 0.8498 | pathogenic | -1.001 | Destabilizing | 0.334 | N | 0.706 | prob.neutral | D | 0.53260731 | None | None | N |
| S/V | 0.9953 | likely_pathogenic | 0.9956 | pathogenic | -0.216 | Destabilizing | 0.826 | D | 0.787 | deleterious | None | None | None | None | N |
| S/W | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -0.773 | Destabilizing | 0.982 | D | 0.831 | deleterious | None | None | None | None | N |
| S/Y | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -0.401 | Destabilizing | 0.935 | D | 0.803 | 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.