Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28926 | 87001;87002;87003 | chr2:178559356;178559355;178559354 | chr2:179424083;179424082;179424081 |
| N2AB | 27285 | 82078;82079;82080 | chr2:178559356;178559355;178559354 | chr2:179424083;179424082;179424081 |
| N2A | 26358 | 79297;79298;79299 | chr2:178559356;178559355;178559354 | chr2:179424083;179424082;179424081 |
| N2B | 19861 | 59806;59807;59808 | chr2:178559356;178559355;178559354 | chr2:179424083;179424082;179424081 |
| Novex-1 | 19986 | 60181;60182;60183 | chr2:178559356;178559355;178559354 | chr2:179424083;179424082;179424081 |
| Novex-2 | 20053 | 60382;60383;60384 | chr2:178559356;178559355;178559354 | chr2:179424083;179424082;179424081 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1441930983  |
-0.61 | 1.0 | D | 0.921 | 0.75 | 0.512942373286 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1441930983 |
-0.61 | 1.0 | D | 0.921 | 0.75 | 0.512942373286 | gnomAD-4.0.0 | 1.59544E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77393E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8052 | likely_pathogenic | 0.837 | pathogenic | -0.742 | Destabilizing | 0.999 | D | 0.762 | deleterious | D | 0.54978801 | None | None | I |
| G/C | 0.8951 | likely_pathogenic | 0.9279 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.551055457 | None | None | I |
| G/D | 0.9553 | likely_pathogenic | 0.9673 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.550548478 | None | None | I |
| G/E | 0.9747 | likely_pathogenic | 0.9813 | pathogenic | -1.39 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/F | 0.9905 | likely_pathogenic | 0.9923 | pathogenic | -1.298 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | I |
| G/H | 0.9769 | likely_pathogenic | 0.9833 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/I | 0.9881 | likely_pathogenic | 0.9911 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
| G/K | 0.9851 | likely_pathogenic | 0.9896 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/L | 0.9791 | likely_pathogenic | 0.9824 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/M | 0.99 | likely_pathogenic | 0.9918 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/N | 0.9673 | likely_pathogenic | 0.9753 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/P | 0.9977 | likely_pathogenic | 0.9983 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/Q | 0.963 | likely_pathogenic | 0.9722 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/R | 0.9446 | likely_pathogenic | 0.9586 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.550294989 | None | None | I |
| G/S | 0.6518 | likely_pathogenic | 0.6992 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.538178215 | None | None | I |
| G/T | 0.9333 | likely_pathogenic | 0.9457 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/V | 0.9748 | likely_pathogenic | 0.9811 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.531683755 | None | None | I |
| G/W | 0.9801 | likely_pathogenic | 0.9857 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/Y | 0.9844 | likely_pathogenic | 0.9884 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | I |
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.