Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7213 | 21862;21863;21864 | chr2:178723463;178723462;178723461 | chr2:179588190;179588189;179588188 |
| N2AB | 6896 | 20911;20912;20913 | chr2:178723463;178723462;178723461 | chr2:179588190;179588189;179588188 |
| N2A | 5969 | 18130;18131;18132 | chr2:178723463;178723462;178723461 | chr2:179588190;179588189;179588188 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs562167496  |
-0.357 | 1.0 | D | 0.742 | 0.403 | 0.183819452728 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 1.2945E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs562167496 |
-0.357 | 1.0 | D | 0.742 | 0.403 | 0.183819452728 | 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 |
| N/K | rs562167496 |
-0.357 | 1.0 | D | 0.742 | 0.403 | 0.183819452728 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| N/K | rs562167496 |
-0.357 | 1.0 | D | 0.742 | 0.403 | 0.183819452728 | gnomAD-4.0.0 | 1.85958E-06 | None | None | None | None | N | None | 2.66581E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60159E-05 |
| N/T | rs794729623 |
None | 0.999 | D | 0.713 | 0.666 | 0.401185642668 | 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 |
| N/T | rs794729623 |
None | 0.999 | D | 0.713 | 0.666 | 0.401185642668 | gnomAD-4.0.0 | 4.33919E-06 | None | None | None | None | N | None | 4.00481E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54323E-06 | 0 | 1.60195E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.949 | likely_pathogenic | 0.9582 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| N/C | 0.8638 | likely_pathogenic | 0.8982 | pathogenic | -0.184 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| N/D | 0.8447 | likely_pathogenic | 0.8655 | pathogenic | -1.153 | Destabilizing | 0.999 | D | 0.605 | neutral | D | 0.534483869 | None | None | N |
| N/E | 0.9866 | likely_pathogenic | 0.9878 | pathogenic | -1.052 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| N/F | 0.9967 | likely_pathogenic | 0.997 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| N/G | 0.8497 | likely_pathogenic | 0.8731 | pathogenic | -1.233 | Destabilizing | 0.999 | D | 0.549 | neutral | None | None | None | None | N |
| N/H | 0.8607 | likely_pathogenic | 0.8778 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.524395011 | None | None | N |
| N/I | 0.9669 | likely_pathogenic | 0.9701 | pathogenic | -0.069 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.542588171 | None | None | N |
| N/K | 0.9875 | likely_pathogenic | 0.9881 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.553348592 | None | None | N |
| N/L | 0.941 | likely_pathogenic | 0.9449 | pathogenic | -0.069 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| N/M | 0.9757 | likely_pathogenic | 0.9784 | pathogenic | 0.459 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| N/P | 0.979 | likely_pathogenic | 0.9816 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9842 | likely_pathogenic | 0.985 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| N/R | 0.9776 | likely_pathogenic | 0.9778 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| N/S | 0.298 | likely_benign | 0.3461 | ambiguous | -0.969 | Destabilizing | 0.999 | D | 0.565 | neutral | N | 0.48886761 | None | None | N |
| N/T | 0.7533 | likely_pathogenic | 0.7948 | pathogenic | -0.687 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | D | 0.526343567 | None | None | N |
| N/V | 0.9439 | likely_pathogenic | 0.9546 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| N/W | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9621 | likely_pathogenic | 0.9671 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.542334682 | 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.