Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27167 | 81724;81725;81726 | chr2:178564633;178564632;178564631 | chr2:179429360;179429359;179429358 |
| N2AB | 25526 | 76801;76802;76803 | chr2:178564633;178564632;178564631 | chr2:179429360;179429359;179429358 |
| N2A | 24599 | 74020;74021;74022 | chr2:178564633;178564632;178564631 | chr2:179429360;179429359;179429358 |
| N2B | 18102 | 54529;54530;54531 | chr2:178564633;178564632;178564631 | chr2:179429360;179429359;179429358 |
| Novex-1 | 18227 | 54904;54905;54906 | chr2:178564633;178564632;178564631 | chr2:179429360;179429359;179429358 |
| Novex-2 | 18294 | 55105;55106;55107 | chr2:178564633;178564632;178564631 | chr2:179429360;179429359;179429358 |
| 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/T | rs775102427  |
-1.928 | 1.0 | N | 0.728 | 0.304 | 0.503868428259 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs775102427 |
-1.928 | 1.0 | N | 0.728 | 0.304 | 0.503868428259 | 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 |
| A/T | rs775102427 |
-1.928 | 1.0 | N | 0.728 | 0.304 | 0.503868428259 | gnomAD-4.0.0 | 6.57324E-06 | None | None | None | None | N | None | 2.41348E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.999 | N | 0.652 | 0.342 | 0.577272212992 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7529 | likely_pathogenic | 0.7591 | pathogenic | -1.768 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| A/D | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -2.977 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.521095966 | None | None | N |
| A/E | 0.9951 | likely_pathogenic | 0.9948 | pathogenic | -2.775 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/F | 0.9854 | likely_pathogenic | 0.9831 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/G | 0.6696 | likely_pathogenic | 0.6513 | pathogenic | -1.977 | Destabilizing | 0.999 | D | 0.539 | neutral | N | 0.496408346 | None | None | N |
| A/H | 0.9971 | likely_pathogenic | 0.9971 | pathogenic | -2.056 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| A/I | 0.8356 | likely_pathogenic | 0.8256 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/K | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/L | 0.8048 | likely_pathogenic | 0.7865 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/M | 0.9057 | likely_pathogenic | 0.8937 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| A/N | 0.9873 | likely_pathogenic | 0.9874 | pathogenic | -1.848 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/P | 0.8919 | likely_pathogenic | 0.8934 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.476262948 | None | None | N |
| A/Q | 0.989 | likely_pathogenic | 0.9889 | pathogenic | -1.654 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/R | 0.9936 | likely_pathogenic | 0.9929 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/S | 0.3966 | ambiguous | 0.4026 | ambiguous | -2.189 | Highly Destabilizing | 0.999 | D | 0.577 | neutral | N | 0.502231242 | None | None | N |
| A/T | 0.6486 | likely_pathogenic | 0.635 | pathogenic | -1.879 | Destabilizing | 1.0 | D | 0.728 | deleterious | N | 0.469883846 | None | None | N |
| A/V | 0.6096 | likely_pathogenic | 0.588 | pathogenic | -0.745 | Destabilizing | 0.999 | D | 0.652 | prob.neutral | N | 0.479100558 | None | None | N |
| A/W | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| A/Y | 0.9952 | likely_pathogenic | 0.9949 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.839 | 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.