Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16715 | 50368;50369;50370 | chr2:178612382;178612381;178612380 | chr2:179477109;179477108;179477107 |
| N2AB | 15074 | 45445;45446;45447 | chr2:178612382;178612381;178612380 | chr2:179477109;179477108;179477107 |
| N2A | 14147 | 42664;42665;42666 | chr2:178612382;178612381;178612380 | chr2:179477109;179477108;179477107 |
| N2B | 7650 | 23173;23174;23175 | chr2:178612382;178612381;178612380 | chr2:179477109;179477108;179477107 |
| Novex-1 | 7775 | 23548;23549;23550 | chr2:178612382;178612381;178612380 | chr2:179477109;179477108;179477107 |
| Novex-2 | 7842 | 23749;23750;23751 | chr2:178612382;178612381;178612380 | chr2:179477109;179477108;179477107 |
| 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/V | rs1181230555  |
-1.772 | 0.999 | D | 0.838 | 0.644 | 0.734837467084 | gnomAD-2.1.1 | 6.38E-05 | None | None | None | None | N | None | 2.29568E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/V | rs1181230555 |
-1.772 | 0.999 | D | 0.838 | 0.644 | 0.734837467084 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | rs1181230555 |
-1.772 | 0.999 | D | 0.838 | 0.644 | 0.734837467084 | gnomAD-4.0.0 | 7.69888E-06 | None | None | None | None | N | None | 1.01616E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.9849 | likely_pathogenic | 0.9865 | pathogenic | -2.659 | Highly Destabilizing | 0.999 | D | 0.828 | deleterious | None | None | None | None | N |
| L/C | 0.9883 | likely_pathogenic | 0.988 | pathogenic | -2.611 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| L/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.216 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| L/E | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -3.057 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| L/F | 0.9579 | likely_pathogenic | 0.9728 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| L/G | 0.9973 | likely_pathogenic | 0.998 | pathogenic | -3.136 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| L/H | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -2.422 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| L/I | 0.5734 | likely_pathogenic | 0.5533 | ambiguous | -1.304 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| L/K | 0.9967 | likely_pathogenic | 0.9982 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| L/M | 0.6528 | likely_pathogenic | 0.6711 | pathogenic | -1.482 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.721449221 | None | None | N |
| L/N | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -2.439 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| L/P | 0.9977 | likely_pathogenic | 0.9985 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.821655044 | None | None | N |
| L/Q | 0.9954 | likely_pathogenic | 0.997 | pathogenic | -2.444 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.789352691 | None | None | N |
| L/R | 0.994 | likely_pathogenic | 0.9964 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.770183478 | None | None | N |
| L/S | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -3.128 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| L/T | 0.9892 | likely_pathogenic | 0.99 | pathogenic | -2.828 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| L/V | 0.6685 | likely_pathogenic | 0.6158 | pathogenic | -1.735 | Destabilizing | 0.999 | D | 0.838 | deleterious | D | 0.610374826 | None | None | N |
| L/W | 0.9982 | likely_pathogenic | 0.9991 | pathogenic | -2.067 | Highly Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| L/Y | 0.9976 | likely_pathogenic | 0.9988 | pathogenic | -1.835 | Destabilizing | 1.0 | D | 0.829 | 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.