Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31645 | 95158;95159;95160 | chr2:178546398;178546397;178546396 | chr2:179411125;179411124;179411123 |
| N2AB | 30004 | 90235;90236;90237 | chr2:178546398;178546397;178546396 | chr2:179411125;179411124;179411123 |
| N2A | 29077 | 87454;87455;87456 | chr2:178546398;178546397;178546396 | chr2:179411125;179411124;179411123 |
| N2B | 22580 | 67963;67964;67965 | chr2:178546398;178546397;178546396 | chr2:179411125;179411124;179411123 |
| Novex-1 | 22705 | 68338;68339;68340 | chr2:178546398;178546397;178546396 | chr2:179411125;179411124;179411123 |
| Novex-2 | 22772 | 68539;68540;68541 | chr2:178546398;178546397;178546396 | chr2:179411125;179411124;179411123 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | D | 0.779 | 0.656 | 0.582701273649 | gnomAD-4.0.0 | 6.84223E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99488E-07 | 0 | 0 |
| P/H | rs1347498882  |
-1.903 | 1.0 | D | 0.781 | 0.683 | 0.697854085041 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/H | rs1347498882 |
-1.903 | 1.0 | D | 0.781 | 0.683 | 0.697854085041 | gnomAD-4.0.0 | 4.77404E-06 | None | None | None | None | N | None | 0 | 4.5731E-05 | None | 0 | 0 | None | 0 | 0 | 2.85848E-06 | 0 | 0 |
| P/L | None | None | 1.0 | D | 0.81 | 0.632 | 0.769528849365 | gnomAD-4.0.0 | 1.59135E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77346E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs770465865 |
-2.146 | 1.0 | D | 0.827 | 0.701 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| P/S | rs770465865 |
-2.146 | 1.0 | D | 0.827 | 0.701 | None | gnomAD-4.0.0 | 8.21067E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07939E-05 | 0 | 0 |
| P/T | rs770465865 |
-1.928 | 1.0 | D | 0.833 | 0.674 | 0.650902943696 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs770465865 |
-1.928 | 1.0 | D | 0.833 | 0.674 | 0.650902943696 | gnomAD-4.0.0 | 6.84223E-07 | None | None | None | None | N | None | 0 | 2.23634E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8774 | likely_pathogenic | 0.8896 | pathogenic | -1.408 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.540322987 | None | None | N |
| P/C | 0.9917 | likely_pathogenic | 0.9935 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/E | 0.9973 | likely_pathogenic | 0.9978 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/F | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/G | 0.9877 | likely_pathogenic | 0.9885 | pathogenic | -1.683 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/H | 0.9971 | likely_pathogenic | 0.9979 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.571304485 | None | None | N |
| P/I | 0.9822 | likely_pathogenic | 0.9883 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/K | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/L | 0.9427 | likely_pathogenic | 0.9601 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.536774134 | None | None | N |
| P/M | 0.9887 | likely_pathogenic | 0.9919 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/N | 0.9981 | likely_pathogenic | 0.9985 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/Q | 0.9949 | likely_pathogenic | 0.9958 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/R | 0.9956 | likely_pathogenic | 0.9963 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.570797506 | None | None | N |
| P/S | 0.9884 | likely_pathogenic | 0.9905 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.558934221 | None | None | N |
| P/T | 0.9771 | likely_pathogenic | 0.9836 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.570290527 | None | None | N |
| P/V | 0.9584 | likely_pathogenic | 0.9696 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| P/Y | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.803 | 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.