Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5880 | 17863;17864;17865 | chr2:178731027;178731026;178731025 | chr2:179595754;179595753;179595752 |
| N2AB | 5563 | 16912;16913;16914 | chr2:178731027;178731026;178731025 | chr2:179595754;179595753;179595752 |
| N2A | 4636 | 14131;14132;14133 | chr2:178731027;178731026;178731025 | chr2:179595754;179595753;179595752 |
| 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/Q | rs1328429496  |
-1.933 | 1.0 | D | 0.902 | 0.798 | 0.875547642386 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| L/Q | rs1328429496 |
-1.933 | 1.0 | D | 0.902 | 0.798 | 0.875547642386 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/Q | rs1328429496 |
-1.933 | 1.0 | D | 0.902 | 0.798 | 0.875547642386 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47063E-05 | 0 | 0 |
| L/R | None | None | 1.0 | D | 0.888 | 0.839 | 0.875113701297 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 3.66327E-05 |
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 | 0.9388 | likely_pathogenic | 0.965 | pathogenic | -2.466 | Highly Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| L/C | 0.8715 | likely_pathogenic | 0.9164 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| L/D | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -3.17 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| L/E | 0.9959 | likely_pathogenic | 0.9981 | pathogenic | -2.837 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| L/F | 0.5242 | ambiguous | 0.6844 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| L/G | 0.9882 | likely_pathogenic | 0.9932 | pathogenic | -3.066 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| L/H | 0.9849 | likely_pathogenic | 0.9924 | pathogenic | -2.929 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| L/I | 0.2937 | likely_benign | 0.4083 | ambiguous | -0.644 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| L/K | 0.993 | likely_pathogenic | 0.9962 | pathogenic | -1.844 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| L/M | 0.3174 | likely_benign | 0.4463 | ambiguous | -0.875 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.517432566 | None | None | N |
| L/N | 0.9966 | likely_pathogenic | 0.9984 | pathogenic | -2.636 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| L/P | 0.9976 | likely_pathogenic | 0.9986 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.543641123 | None | None | N |
| L/Q | 0.9761 | likely_pathogenic | 0.9881 | pathogenic | -2.196 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | D | 0.543641123 | None | None | N |
| L/R | 0.9817 | likely_pathogenic | 0.9885 | pathogenic | -2.149 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.555162013 | None | None | N |
| L/S | 0.9903 | likely_pathogenic | 0.9963 | pathogenic | -3.095 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| L/T | 0.9726 | likely_pathogenic | 0.9879 | pathogenic | -2.59 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| L/V | 0.3412 | ambiguous | 0.4652 | ambiguous | -1.245 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.512406136 | None | None | N |
| L/W | 0.9426 | likely_pathogenic | 0.9715 | pathogenic | -1.809 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| L/Y | 0.9573 | likely_pathogenic | 0.9791 | pathogenic | -1.639 | Destabilizing | 1.0 | D | 0.85 | 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.