Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30460 | 91603;91604;91605 | chr2:178551153;178551152;178551151 | chr2:179415880;179415879;179415878 |
| N2AB | 28819 | 86680;86681;86682 | chr2:178551153;178551152;178551151 | chr2:179415880;179415879;179415878 |
| N2A | 27892 | 83899;83900;83901 | chr2:178551153;178551152;178551151 | chr2:179415880;179415879;179415878 |
| N2B | 21395 | 64408;64409;64410 | chr2:178551153;178551152;178551151 | chr2:179415880;179415879;179415878 |
| Novex-1 | 21520 | 64783;64784;64785 | chr2:178551153;178551152;178551151 | chr2:179415880;179415879;179415878 |
| Novex-2 | 21587 | 64984;64985;64986 | chr2:178551153;178551152;178551151 | chr2:179415880;179415879;179415878 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs908278682  |
-1.21 | 0.999 | D | 0.669 | 0.461 | 0.378322506985 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs908278682 |
-1.21 | 0.999 | D | 0.669 | 0.461 | 0.378322506985 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs908278682 |
-1.21 | 0.999 | D | 0.669 | 0.461 | 0.378322506985 | gnomAD-4.0.0 | 6.57393E-06 | None | None | None | None | N | None | 2.41394E-05 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.9586 | likely_pathogenic | 0.964 | pathogenic | -1.781 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | D | 0.545560231 | None | None | N |
| E/C | 0.9923 | likely_pathogenic | 0.9924 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| E/D | 0.9267 | likely_pathogenic | 0.9248 | pathogenic | -1.845 | Destabilizing | 0.999 | D | 0.632 | neutral | N | 0.483930085 | None | None | N |
| E/F | 0.9955 | likely_pathogenic | 0.995 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| E/G | 0.9679 | likely_pathogenic | 0.9731 | pathogenic | -2.162 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.535813768 | None | None | N |
| E/H | 0.9886 | likely_pathogenic | 0.9882 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/I | 0.984 | likely_pathogenic | 0.984 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| E/K | 0.9723 | likely_pathogenic | 0.9769 | pathogenic | -1.761 | Destabilizing | 0.999 | D | 0.669 | neutral | D | 0.526188529 | None | None | N |
| E/L | 0.9813 | likely_pathogenic | 0.9806 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/M | 0.9821 | likely_pathogenic | 0.9822 | pathogenic | 0.091 | Stabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| E/N | 0.9918 | likely_pathogenic | 0.9915 | pathogenic | -1.957 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/P | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/Q | 0.7828 | likely_pathogenic | 0.7816 | pathogenic | -1.676 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.467583349 | None | None | N |
| E/R | 0.9711 | likely_pathogenic | 0.9751 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/S | 0.9635 | likely_pathogenic | 0.965 | pathogenic | -2.596 | Highly Destabilizing | 0.999 | D | 0.74 | deleterious | None | None | None | None | N |
| E/T | 0.9818 | likely_pathogenic | 0.9823 | pathogenic | -2.232 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/V | 0.9659 | likely_pathogenic | 0.967 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.528216445 | None | None | N |
| E/W | 0.9975 | likely_pathogenic | 0.9975 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| E/Y | 0.9934 | likely_pathogenic | 0.9929 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.791 | 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.