Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 88 | 487;488;489 | chr2:178802171;178802170;178802169 | chr2:179666898;179666897;179666896 |
| N2AB | 88 | 487;488;489 | chr2:178802171;178802170;178802169 | chr2:179666898;179666897;179666896 |
| N2A | 88 | 487;488;489 | chr2:178802171;178802170;178802169 | chr2:179666898;179666897;179666896 |
| N2B | 88 | 487;488;489 | chr2:178802171;178802170;178802169 | chr2:179666898;179666897;179666896 |
| Novex-1 | 88 | 487;488;489 | chr2:178802171;178802170;178802169 | chr2:179666898;179666897;179666896 |
| Novex-2 | 88 | 487;488;489 | chr2:178802171;178802170;178802169 | chr2:179666898;179666897;179666896 |
| Novex-3 | 88 | 487;488;489 | chr2:178802171;178802170;178802169 | chr2:179666898;179666897;179666896 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | 0.978 | N | 0.404 | 0.35 | 0.255777322467 | gnomAD-4.0.0 | 1.2004E-06 | None | None | None | -1.409(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31259E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2891 | likely_benign | 0.2425 | benign | -0.324 | Destabilizing | 0.997 | D | 0.599 | neutral | None | None | None | -0.702(TCAP) | N |
| Q/C | 0.9354 | likely_pathogenic | 0.8967 | pathogenic | 0.214 | Stabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | -0.398(TCAP) | N |
| Q/D | 0.5978 | likely_pathogenic | 0.4971 | ambiguous | -0.183 | Destabilizing | 0.99 | D | 0.629 | neutral | None | None | None | -1.377(TCAP) | N |
| Q/E | 0.0887 | likely_benign | 0.0837 | benign | -0.21 | Destabilizing | 0.978 | D | 0.404 | neutral | N | 0.364993667 | None | -1.409(TCAP) | N |
| Q/F | 0.8251 | likely_pathogenic | 0.7547 | pathogenic | -0.48 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | None | None | None | -0.7(TCAP) | N |
| Q/G | 0.49 | ambiguous | 0.406 | ambiguous | -0.529 | Destabilizing | 0.997 | D | 0.609 | neutral | None | None | None | -0.75(TCAP) | N |
| Q/H | 0.4081 | ambiguous | 0.3224 | benign | -0.483 | Destabilizing | 0.997 | D | 0.688 | prob.neutral | N | 0.508561465 | None | -0.645(TCAP) | N |
| Q/I | 0.4618 | ambiguous | 0.3966 | ambiguous | 0.134 | Stabilizing | 0.998 | D | 0.717 | prob.delet. | None | None | None | -0.587(TCAP) | N |
| Q/K | 0.1539 | likely_benign | 0.1239 | benign | -0.015 | Destabilizing | 0.99 | D | 0.539 | neutral | N | 0.468637563 | None | -1.723(TCAP) | N |
| Q/L | 0.2393 | likely_benign | 0.1952 | benign | 0.134 | Stabilizing | 0.99 | D | 0.609 | neutral | D | 0.539148078 | None | -0.587(TCAP) | N |
| Q/M | 0.4457 | ambiguous | 0.386 | ambiguous | 0.528 | Stabilizing | 0.998 | D | 0.687 | prob.neutral | None | None | None | 0.286(TCAP) | N |
| Q/N | 0.4457 | ambiguous | 0.3663 | ambiguous | -0.311 | Destabilizing | 0.997 | D | 0.658 | neutral | None | None | None | -1.02(TCAP) | N |
| Q/P | 0.6536 | likely_pathogenic | 0.5832 | pathogenic | 0.01 | Stabilizing | 0.996 | D | 0.681 | prob.neutral | N | 0.514204684 | None | -0.619(TCAP) | N |
| Q/R | 0.2 | likely_benign | 0.1584 | benign | 0.168 | Stabilizing | 0.985 | D | 0.617 | neutral | N | 0.498845922 | None | -1.629(TCAP) | N |
| Q/S | 0.3079 | likely_benign | 0.2649 | benign | -0.318 | Destabilizing | 0.997 | D | 0.599 | neutral | None | None | None | -1.337(TCAP) | N |
| Q/T | 0.2366 | likely_benign | 0.2071 | benign | -0.19 | Destabilizing | 0.979 | D | 0.63 | neutral | None | None | None | -1.289(TCAP) | N |
| Q/V | 0.2976 | likely_benign | 0.2615 | benign | 0.01 | Stabilizing | 0.993 | D | 0.615 | neutral | None | None | None | -0.619(TCAP) | N |
| Q/W | 0.8217 | likely_pathogenic | 0.7481 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | -0.765(TCAP) | N |
| Q/Y | 0.7094 | likely_pathogenic | 0.6153 | pathogenic | -0.185 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | -0.468(TCAP) | 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.