Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17826 | 53701;53702;53703 | chr2:178607126;178607125;178607124 | chr2:179471853;179471852;179471851 |
| N2AB | 16185 | 48778;48779;48780 | chr2:178607126;178607125;178607124 | chr2:179471853;179471852;179471851 |
| N2A | 15258 | 45997;45998;45999 | chr2:178607126;178607125;178607124 | chr2:179471853;179471852;179471851 |
| N2B | 8761 | 26506;26507;26508 | chr2:178607126;178607125;178607124 | chr2:179471853;179471852;179471851 |
| Novex-1 | 8886 | 26881;26882;26883 | chr2:178607126;178607125;178607124 | chr2:179471853;179471852;179471851 |
| Novex-2 | 8953 | 27082;27083;27084 | chr2:178607126;178607125;178607124 | chr2:179471853;179471852;179471851 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | None | None | 1.0 | N | 0.765 | 0.55 | 0.766626682668 | gnomAD-4.0.0 | 1.59317E-06 | None | None | None | None | N | None | 0 | 2.28791E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1158023438  |
-0.113 | 1.0 | N | 0.743 | 0.469 | 0.253726318573 | 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 |
| G/D | rs1158023438 |
-0.113 | 1.0 | N | 0.743 | 0.469 | 0.253726318573 | gnomAD-4.0.0 | 6.84567E-07 | None | None | None | None | N | None | 0 | 2.23764E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1158023438 |
None | 1.0 | N | 0.76 | 0.567 | 0.797182237053 | gnomAD-4.0.0 | 1.36913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79966E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5154 | ambiguous | 0.4616 | ambiguous | -0.391 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | N | 0.495717691 | None | None | N |
| G/C | 0.7478 | likely_pathogenic | 0.7313 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.515089394 | None | None | N |
| G/D | 0.8683 | likely_pathogenic | 0.8577 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.46441503 | None | None | N |
| G/E | 0.9207 | likely_pathogenic | 0.8969 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/F | 0.9597 | likely_pathogenic | 0.9443 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/H | 0.9312 | likely_pathogenic | 0.914 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/I | 0.9225 | likely_pathogenic | 0.8992 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/K | 0.9731 | likely_pathogenic | 0.9664 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/L | 0.9185 | likely_pathogenic | 0.8992 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/M | 0.9194 | likely_pathogenic | 0.8942 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| G/N | 0.7216 | likely_pathogenic | 0.6851 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/P | 0.9885 | likely_pathogenic | 0.9849 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/Q | 0.8967 | likely_pathogenic | 0.8679 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/R | 0.9466 | likely_pathogenic | 0.9315 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.51971374 | None | None | N |
| G/S | 0.3827 | ambiguous | 0.3539 | ambiguous | -0.84 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.467952198 | None | None | N |
| G/T | 0.7104 | likely_pathogenic | 0.6625 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/V | 0.855 | likely_pathogenic | 0.8099 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.514835904 | None | None | N |
| G/W | 0.9418 | likely_pathogenic | 0.9358 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/Y | 0.9313 | likely_pathogenic | 0.9113 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.777 | 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.