Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34438 | 103537;103538;103539 | chr2:178533303;178533302;178533301 | chr2:179398030;179398029;179398028 |
| N2AB | 32797 | 98614;98615;98616 | chr2:178533303;178533302;178533301 | chr2:179398030;179398029;179398028 |
| N2A | 31870 | 95833;95834;95835 | chr2:178533303;178533302;178533301 | chr2:179398030;179398029;179398028 |
| N2B | 25373 | 76342;76343;76344 | chr2:178533303;178533302;178533301 | chr2:179398030;179398029;179398028 |
| Novex-1 | 25498 | 76717;76718;76719 | chr2:178533303;178533302;178533301 | chr2:179398030;179398029;179398028 |
| Novex-2 | 25565 | 76918;76919;76920 | chr2:178533303;178533302;178533301 | chr2:179398030;179398029;179398028 |
| 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/T | None | None | 1.0 | D | 0.781 | 0.834 | 0.67255216832 | gnomAD-4.0.0 | 1.591E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 | 0.9703 | likely_pathogenic | 0.94 | pathogenic | -2.047 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/D | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.491 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.642483091 | None | None | N |
| A/E | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.362 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| A/F | 0.9972 | likely_pathogenic | 0.9966 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| A/G | 0.7844 | likely_pathogenic | 0.7069 | pathogenic | -1.648 | Destabilizing | 1.0 | D | 0.565 | neutral | D | 0.593789235 | None | None | N |
| A/H | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.72 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/I | 0.9866 | likely_pathogenic | 0.9809 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.362 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/L | 0.9575 | likely_pathogenic | 0.9492 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/M | 0.9892 | likely_pathogenic | 0.9844 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| A/N | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.638 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| A/P | 0.9987 | likely_pathogenic | 0.9982 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.642281287 | None | None | N |
| A/Q | 0.9978 | likely_pathogenic | 0.9975 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/R | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| A/S | 0.7938 | likely_pathogenic | 0.7179 | pathogenic | -2.078 | Highly Destabilizing | 1.0 | D | 0.565 | neutral | D | 0.596837736 | None | None | N |
| A/T | 0.959 | likely_pathogenic | 0.9317 | pathogenic | -1.829 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.609637152 | None | None | N |
| A/V | 0.9275 | likely_pathogenic | 0.8942 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.647 | neutral | N | 0.509759564 | None | None | N |
| A/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/Y | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.893 | 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.