Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19971 | 60136;60137;60138 | chr2:178591993;178591992;178591991 | chr2:179456720;179456719;179456718 |
| N2AB | 18330 | 55213;55214;55215 | chr2:178591993;178591992;178591991 | chr2:179456720;179456719;179456718 |
| N2A | 17403 | 52432;52433;52434 | chr2:178591993;178591992;178591991 | chr2:179456720;179456719;179456718 |
| N2B | 10906 | 32941;32942;32943 | chr2:178591993;178591992;178591991 | chr2:179456720;179456719;179456718 |
| Novex-1 | 11031 | 33316;33317;33318 | chr2:178591993;178591992;178591991 | chr2:179456720;179456719;179456718 |
| Novex-2 | 11098 | 33517;33518;33519 | chr2:178591993;178591992;178591991 | chr2:179456720;179456719;179456718 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1261750982  |
None | 0.991 | N | 0.645 | 0.286 | 0.305730143919 | 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 |
| A/T | rs1261750982 |
None | 0.991 | N | 0.645 | 0.286 | 0.305730143919 | gnomAD-4.0.0 | 6.5767E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47067E-05 | 0 | 0 |
| A/V | rs886055258 |
-0.783 | 0.779 | N | 0.344 | 0.249 | 0.263140351381 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| A/V | rs886055258 |
-0.783 | 0.779 | N | 0.344 | 0.249 | 0.263140351381 | 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 |
| A/V | rs886055258 |
-0.783 | 0.779 | N | 0.344 | 0.249 | 0.263140351381 | gnomAD-4.0.0 | 4.34075E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08726E-06 | 0 | 1.60231E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6966 | likely_pathogenic | 0.7203 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| A/D | 0.9904 | likely_pathogenic | 0.9945 | pathogenic | -3.011 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.470532926 | None | None | N |
| A/E | 0.9837 | likely_pathogenic | 0.9898 | pathogenic | -2.828 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| A/F | 0.913 | likely_pathogenic | 0.9303 | pathogenic | -0.919 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| A/G | 0.5036 | ambiguous | 0.5728 | pathogenic | -1.996 | Destabilizing | 0.999 | D | 0.567 | neutral | N | 0.470012851 | None | None | N |
| A/H | 0.9883 | likely_pathogenic | 0.9921 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/I | 0.5677 | likely_pathogenic | 0.6249 | pathogenic | -0.511 | Destabilizing | 0.987 | D | 0.743 | deleterious | None | None | None | None | N |
| A/K | 0.995 | likely_pathogenic | 0.997 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/L | 0.5499 | ambiguous | 0.6179 | pathogenic | -0.511 | Destabilizing | 0.987 | D | 0.654 | prob.neutral | None | None | None | None | N |
| A/M | 0.707 | likely_pathogenic | 0.7344 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/N | 0.9552 | likely_pathogenic | 0.9701 | pathogenic | -1.891 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| A/P | 0.7658 | likely_pathogenic | 0.8274 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.470359568 | None | None | N |
| A/Q | 0.9748 | likely_pathogenic | 0.9804 | pathogenic | -1.734 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/R | 0.9813 | likely_pathogenic | 0.9873 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| A/S | 0.3747 | ambiguous | 0.4185 | ambiguous | -2.218 | Highly Destabilizing | 0.996 | D | 0.619 | neutral | N | 0.469839493 | None | None | N |
| A/T | 0.5577 | ambiguous | 0.6288 | pathogenic | -1.934 | Destabilizing | 0.991 | D | 0.645 | neutral | N | 0.46914606 | None | None | N |
| A/V | 0.3429 | ambiguous | 0.3872 | ambiguous | -0.837 | Destabilizing | 0.779 | D | 0.344 | neutral | N | 0.468452626 | None | None | N |
| A/W | 0.9934 | likely_pathogenic | 0.996 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/Y | 0.9694 | likely_pathogenic | 0.9801 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.801 | 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.