Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7572 | 22939;22940;22941 | chr2:178721949;178721948;178721947 | chr2:179586676;179586675;179586674 |
| N2AB | 7255 | 21988;21989;21990 | chr2:178721949;178721948;178721947 | chr2:179586676;179586675;179586674 |
| N2A | 6328 | 19207;19208;19209 | chr2:178721949;178721948;178721947 | chr2:179586676;179586675;179586674 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/S | rs759949024  |
-3.078 | 1.0 | D | 0.885 | 0.696 | 0.888493578324 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| L/S | rs759949024 |
-3.078 | 1.0 | D | 0.885 | 0.696 | 0.888493578324 | gnomAD-4.0.0 | 6.84338E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99637E-07 | 0 | 0 |
| L/V | None | None | 0.994 | D | 0.746 | 0.553 | 0.632447501408 | gnomAD-4.0.0 | 6.84317E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99607E-07 | 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 | 0.9759 | likely_pathogenic | 0.9781 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| L/C | 0.9667 | likely_pathogenic | 0.962 | pathogenic | -1.656 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| L/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.158 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| L/E | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -2.839 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| L/F | 0.7805 | likely_pathogenic | 0.8177 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.544575722 | None | None | N |
| L/G | 0.9951 | likely_pathogenic | 0.996 | pathogenic | -3.035 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| L/H | 0.9965 | likely_pathogenic | 0.997 | pathogenic | -2.939 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| L/I | 0.3596 | ambiguous | 0.3819 | ambiguous | -0.718 | Destabilizing | 0.994 | D | 0.725 | prob.delet. | None | None | None | None | N |
| L/K | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -1.815 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| L/M | 0.523 | ambiguous | 0.5079 | ambiguous | -1.061 | Destabilizing | 0.988 | D | 0.648 | neutral | D | 0.540803513 | None | None | N |
| L/N | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.582 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| L/P | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| L/Q | 0.9929 | likely_pathogenic | 0.9942 | pathogenic | -2.159 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| L/R | 0.9937 | likely_pathogenic | 0.9951 | pathogenic | -2.112 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| L/S | 0.9978 | likely_pathogenic | 0.9981 | pathogenic | -2.993 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.584457989 | None | None | N |
| L/T | 0.9916 | likely_pathogenic | 0.9925 | pathogenic | -2.511 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| L/V | 0.4009 | ambiguous | 0.4224 | ambiguous | -1.294 | Destabilizing | 0.994 | D | 0.746 | deleterious | D | 0.540550024 | None | None | N |
| L/W | 0.9912 | likely_pathogenic | 0.9933 | pathogenic | -1.802 | Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.584457989 | None | None | N |
| L/Y | 0.9917 | likely_pathogenic | 0.993 | pathogenic | -1.669 | Destabilizing | 1.0 | D | 0.849 | 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.