Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28085 | 84478;84479;84480 | chr2:178561879;178561878;178561877 | chr2:179426606;179426605;179426604 |
| N2AB | 26444 | 79555;79556;79557 | chr2:178561879;178561878;178561877 | chr2:179426606;179426605;179426604 |
| N2A | 25517 | 76774;76775;76776 | chr2:178561879;178561878;178561877 | chr2:179426606;179426605;179426604 |
| N2B | 19020 | 57283;57284;57285 | chr2:178561879;178561878;178561877 | chr2:179426606;179426605;179426604 |
| Novex-1 | 19145 | 57658;57659;57660 | chr2:178561879;178561878;178561877 | chr2:179426606;179426605;179426604 |
| Novex-2 | 19212 | 57859;57860;57861 | chr2:178561879;178561878;178561877 | chr2:179426606;179426605;179426604 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs2154160212  |
None | 1.0 | N | 0.813 | 0.563 | 0.775956897808 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | rs2154160212 |
None | 1.0 | N | 0.813 | 0.563 | 0.775956897808 | gnomAD-4.0.0 | 6.56573E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.93274E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | None | None | 1.0 | N | 0.813 | 0.475 | 0.730430415971 | gnomAD-4.0.0 | 1.59181E-06 | None | None | None | None | I | None | 0 | 2.2877E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6555 | likely_pathogenic | 0.5838 | pathogenic | -1.866 | Destabilizing | 0.998 | D | 0.582 | neutral | None | None | None | None | I |
| C/D | 0.9575 | likely_pathogenic | 0.9598 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| C/E | 0.9823 | likely_pathogenic | 0.9841 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| C/F | 0.5753 | likely_pathogenic | 0.5934 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.4820403 | None | None | I |
| C/G | 0.3702 | ambiguous | 0.3427 | ambiguous | -2.138 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.473778301 | None | None | I |
| C/H | 0.9016 | likely_pathogenic | 0.9126 | pathogenic | -2.085 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| C/I | 0.8533 | likely_pathogenic | 0.8421 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| C/K | 0.9877 | likely_pathogenic | 0.9892 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| C/L | 0.8324 | likely_pathogenic | 0.8175 | pathogenic | -1.178 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | I |
| C/M | 0.8654 | likely_pathogenic | 0.8473 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| C/N | 0.8182 | likely_pathogenic | 0.8125 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| C/P | 0.9953 | likely_pathogenic | 0.9949 | pathogenic | -1.383 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| C/Q | 0.9375 | likely_pathogenic | 0.9443 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| C/R | 0.9217 | likely_pathogenic | 0.9377 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.514128988 | None | None | I |
| C/S | 0.3422 | ambiguous | 0.3102 | benign | -1.394 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.385143383 | None | None | I |
| C/T | 0.684 | likely_pathogenic | 0.6561 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| C/V | 0.7392 | likely_pathogenic | 0.7077 | pathogenic | -1.383 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | I |
| C/W | 0.879 | likely_pathogenic | 0.8935 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.508538346 | None | None | I |
| C/Y | 0.7782 | likely_pathogenic | 0.8007 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.481786811 | 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.