Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30411 | 91456;91457;91458 | chr2:178551669;178551668;178551667 | chr2:179416396;179416395;179416394 |
| N2AB | 28770 | 86533;86534;86535 | chr2:178551669;178551668;178551667 | chr2:179416396;179416395;179416394 |
| N2A | 27843 | 83752;83753;83754 | chr2:178551669;178551668;178551667 | chr2:179416396;179416395;179416394 |
| N2B | 21346 | 64261;64262;64263 | chr2:178551669;178551668;178551667 | chr2:179416396;179416395;179416394 |
| Novex-1 | 21471 | 64636;64637;64638 | chr2:178551669;178551668;178551667 | chr2:179416396;179416395;179416394 |
| Novex-2 | 21538 | 64837;64838;64839 | chr2:178551669;178551668;178551667 | chr2:179416396;179416395;179416394 |
| 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 | None | None | 0.999 | D | 0.893 | 0.584 | 0.615520507219 | gnomAD-4.0.0 | 3.22706E-06 | None | None | None | None | N | None | 5.76768E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.45539E-05 | 0 |
| S/T | rs1482766164  |
None | 0.999 | D | 0.887 | 0.557 | 0.551961605406 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88018E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs1482766164 |
None | 0.999 | D | 0.887 | 0.557 | 0.551961605406 | gnomAD-4.0.0 | 6.57436E-06 | None | None | None | None | N | None | 0 | 0 | None | 2.88018E-04 | 0 | None | 0 | 0 | 0 | 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 | 0.3588 | ambiguous | 0.4119 | ambiguous | -1.058 | Destabilizing | 0.998 | D | 0.837 | deleterious | None | None | None | None | N |
| S/C | 0.3979 | ambiguous | 0.4299 | ambiguous | -0.873 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.563436764 | None | None | N |
| S/D | 0.99 | likely_pathogenic | 0.9928 | pathogenic | -1.766 | Destabilizing | 0.999 | D | 0.891 | deleterious | None | None | None | None | N |
| S/E | 0.9947 | likely_pathogenic | 0.9958 | pathogenic | -1.581 | Destabilizing | 0.999 | D | 0.888 | deleterious | None | None | None | None | N |
| S/F | 0.9922 | likely_pathogenic | 0.9947 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| S/G | 0.3129 | likely_benign | 0.3828 | ambiguous | -1.427 | Destabilizing | 0.999 | D | 0.877 | deleterious | N | 0.517313526 | None | None | N |
| S/H | 0.9894 | likely_pathogenic | 0.9911 | pathogenic | -1.662 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| S/I | 0.9688 | likely_pathogenic | 0.9719 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.562929785 | None | None | N |
| S/K | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -0.764 | Destabilizing | 0.999 | D | 0.887 | deleterious | None | None | None | None | N |
| S/L | 0.9019 | likely_pathogenic | 0.9101 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| S/M | 0.9497 | likely_pathogenic | 0.9555 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| S/N | 0.954 | likely_pathogenic | 0.9603 | pathogenic | -1.334 | Destabilizing | 0.999 | D | 0.893 | deleterious | D | 0.562676296 | None | None | N |
| S/P | 0.9888 | likely_pathogenic | 0.9918 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| S/Q | 0.9911 | likely_pathogenic | 0.9926 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| S/R | 0.9966 | likely_pathogenic | 0.9976 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.543811572 | None | None | N |
| S/T | 0.4414 | ambiguous | 0.4103 | ambiguous | -1.01 | Destabilizing | 0.999 | D | 0.887 | deleterious | D | 0.522287049 | None | None | N |
| S/V | 0.9075 | likely_pathogenic | 0.915 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| S/W | 0.9948 | likely_pathogenic | 0.996 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| S/Y | 0.9917 | likely_pathogenic | 0.9938 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.913 | 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.