Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6646 | 20161;20162;20163 | chr2:178727642;178727641;178727640 | chr2:179592369;179592368;179592367 |
| N2AB | 6329 | 19210;19211;19212 | chr2:178727642;178727641;178727640 | chr2:179592369;179592368;179592367 |
| N2A | 5402 | 16429;16430;16431 | chr2:178727642;178727641;178727640 | chr2:179592369;179592368;179592367 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/Y | rs575692993  |
-1.63 | 1.0 | D | 0.914 | 0.579 | 0.810174296794 | gnomAD-2.1.1 | 1.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.03079E-04 | None | 0 | 0 | 0 |
| C/Y | rs575692993 |
-1.63 | 1.0 | D | 0.914 | 0.579 | 0.810174296794 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| C/Y | rs575692993 |
-1.63 | 1.0 | D | 0.914 | 0.579 | 0.810174296794 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| C/Y | rs575692993 |
-1.63 | 1.0 | D | 0.914 | 0.579 | 0.810174296794 | gnomAD-4.0.0 | 3.7348E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.47417E-05 | 3.21657E-05 |
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 | 0.8943 | likely_pathogenic | 0.8518 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| C/D | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| C/E | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| C/F | 0.6893 | likely_pathogenic | 0.6521 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.55495257 | None | None | N |
| C/G | 0.8157 | likely_pathogenic | 0.7633 | pathogenic | -2.085 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.556473507 | None | None | N |
| C/H | 0.9942 | likely_pathogenic | 0.9948 | pathogenic | -2.234 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| C/I | 0.8008 | likely_pathogenic | 0.7666 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| C/L | 0.7364 | likely_pathogenic | 0.7101 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| C/M | 0.9143 | likely_pathogenic | 0.9022 | pathogenic | 0.258 | Stabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| C/N | 0.9946 | likely_pathogenic | 0.9941 | pathogenic | -1.776 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| C/P | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| C/Q | 0.997 | likely_pathogenic | 0.9973 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| C/R | 0.9914 | likely_pathogenic | 0.9931 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.556473507 | None | None | N |
| C/S | 0.9346 | likely_pathogenic | 0.9154 | pathogenic | -2.075 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.556473507 | None | None | N |
| C/T | 0.9655 | likely_pathogenic | 0.9527 | pathogenic | -1.639 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| C/V | 0.726 | likely_pathogenic | 0.6715 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| C/W | 0.966 | likely_pathogenic | 0.9703 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.556473507 | None | None | N |
| C/Y | 0.9236 | likely_pathogenic | 0.9236 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.914 | deleterious | D | 0.556473507 | 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.