Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3025 | 9298;9299;9300 | chr2:178768763;178768762;178768761 | chr2:179633490;179633489;179633488 |
| N2AB | 3025 | 9298;9299;9300 | chr2:178768763;178768762;178768761 | chr2:179633490;179633489;179633488 |
| N2A | 3025 | 9298;9299;9300 | chr2:178768763;178768762;178768761 | chr2:179633490;179633489;179633488 |
| N2B | 2979 | 9160;9161;9162 | chr2:178768763;178768762;178768761 | chr2:179633490;179633489;179633488 |
| Novex-1 | 2979 | 9160;9161;9162 | chr2:178768763;178768762;178768761 | chr2:179633490;179633489;179633488 |
| Novex-2 | 2979 | 9160;9161;9162 | chr2:178768763;178768762;178768761 | chr2:179633490;179633489;179633488 |
| Novex-3 | 3025 | 9298;9299;9300 | chr2:178768763;178768762;178768761 | chr2:179633490;179633489;179633488 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/V | rs142410663  |
-0.563 | 0.999 | D | 0.674 | 0.702 | None | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| L/V | rs142410663 |
-0.563 | 0.999 | D | 0.674 | 0.702 | None | gnomAD-4.0.0 | 3.1812E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71298E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9838 | likely_pathogenic | 0.9823 | pathogenic | -2.141 | Highly Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| L/C | 0.9629 | likely_pathogenic | 0.9685 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| L/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.888 | Highly Destabilizing | 1.0 | D | 0.93 | deleterious | None | None | None | None | N |
| L/E | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.563 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| L/F | 0.809 | likely_pathogenic | 0.8331 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| L/G | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -2.756 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| L/H | 0.9976 | likely_pathogenic | 0.9975 | pathogenic | -2.749 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| L/I | 0.4765 | ambiguous | 0.489 | ambiguous | -0.296 | Destabilizing | 0.999 | D | 0.68 | prob.neutral | None | None | None | None | N |
| L/K | 0.9978 | likely_pathogenic | 0.9976 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/M | 0.4259 | ambiguous | 0.4222 | ambiguous | -0.686 | Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.652615062 | None | None | N |
| L/N | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -2.198 | Highly Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | None | None | N |
| L/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.93 | deleterious | D | 0.730455304 | None | None | N |
| L/Q | 0.995 | likely_pathogenic | 0.9943 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.928 | deleterious | D | 0.730455304 | None | None | N |
| L/R | 0.9948 | likely_pathogenic | 0.9945 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.730455304 | None | None | N |
| L/S | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -2.754 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| L/T | 0.9945 | likely_pathogenic | 0.9945 | pathogenic | -2.249 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| L/V | 0.5569 | ambiguous | 0.5468 | ambiguous | -0.901 | Destabilizing | 0.999 | D | 0.674 | neutral | D | 0.727881516 | None | None | N |
| L/W | 0.9881 | likely_pathogenic | 0.989 | pathogenic | -1.709 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| L/Y | 0.9899 | likely_pathogenic | 0.9898 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.881 | 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.