Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30419 | 91480;91481;91482 | chr2:178551645;178551644;178551643 | chr2:179416372;179416371;179416370 |
| N2AB | 28778 | 86557;86558;86559 | chr2:178551645;178551644;178551643 | chr2:179416372;179416371;179416370 |
| N2A | 27851 | 83776;83777;83778 | chr2:178551645;178551644;178551643 | chr2:179416372;179416371;179416370 |
| N2B | 21354 | 64285;64286;64287 | chr2:178551645;178551644;178551643 | chr2:179416372;179416371;179416370 |
| Novex-1 | 21479 | 64660;64661;64662 | chr2:178551645;178551644;178551643 | chr2:179416372;179416371;179416370 |
| Novex-2 | 21546 | 64861;64862;64863 | chr2:178551645;178551644;178551643 | chr2:179416372;179416371;179416370 |
| 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/P | None | None | 1.0 | N | 0.767 | 0.446 | 0.399596177874 | gnomAD-4.0.0 | 6.97832E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.22297E-05 | 0 |
| A/T | None | None | 1.0 | N | 0.721 | 0.317 | 0.337868961071 | gnomAD-4.0.0 | 2.79133E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.64605E-06 | 0 | 0 |
| A/V | None | None | 0.999 | N | 0.63 | 0.312 | 0.535959997616 | gnomAD-4.0.0 | 1.20043E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31262E-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 | 0.8376 | likely_pathogenic | 0.8247 | pathogenic | -1.977 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| A/D | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -2.925 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | N | 0.508534665 | None | None | N |
| A/E | 0.997 | likely_pathogenic | 0.997 | pathogenic | -2.749 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| A/F | 0.9914 | likely_pathogenic | 0.9919 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/G | 0.6674 | likely_pathogenic | 0.6575 | pathogenic | -1.752 | Destabilizing | 0.999 | D | 0.565 | neutral | N | 0.488619985 | None | None | N |
| A/H | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -1.835 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/I | 0.9449 | likely_pathogenic | 0.9351 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/K | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.362 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| A/L | 0.8633 | likely_pathogenic | 0.8512 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| A/M | 0.9411 | likely_pathogenic | 0.9383 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/N | 0.9926 | likely_pathogenic | 0.9919 | pathogenic | -1.78 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/P | 0.963 | likely_pathogenic | 0.9574 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.467246819 | None | None | N |
| A/Q | 0.9931 | likely_pathogenic | 0.9928 | pathogenic | -1.66 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/R | 0.9959 | likely_pathogenic | 0.9961 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| A/S | 0.4822 | ambiguous | 0.479 | ambiguous | -2.121 | Highly Destabilizing | 0.999 | D | 0.598 | neutral | N | 0.471325424 | None | None | N |
| A/T | 0.8172 | likely_pathogenic | 0.7876 | pathogenic | -1.834 | Destabilizing | 1.0 | D | 0.721 | deleterious | N | 0.520054883 | None | None | N |
| A/V | 0.7922 | likely_pathogenic | 0.7619 | pathogenic | -0.618 | Destabilizing | 0.999 | D | 0.63 | neutral | N | 0.472072666 | None | None | N |
| A/W | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/Y | 0.9969 | likely_pathogenic | 0.9972 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.841 | 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.