Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22074 | 66445;66446;66447 | chr2:178582149;178582148;178582147 | chr2:179446876;179446875;179446874 |
| N2AB | 20433 | 61522;61523;61524 | chr2:178582149;178582148;178582147 | chr2:179446876;179446875;179446874 |
| N2A | 19506 | 58741;58742;58743 | chr2:178582149;178582148;178582147 | chr2:179446876;179446875;179446874 |
| N2B | 13009 | 39250;39251;39252 | chr2:178582149;178582148;178582147 | chr2:179446876;179446875;179446874 |
| Novex-1 | 13134 | 39625;39626;39627 | chr2:178582149;178582148;178582147 | chr2:179446876;179446875;179446874 |
| Novex-2 | 13201 | 39826;39827;39828 | chr2:178582149;178582148;178582147 | chr2:179446876;179446875;179446874 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs1156659564  |
0.181 | 0.997 | N | 0.563 | 0.21 | 0.518312163451 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/I | rs1156659564 |
0.181 | 0.997 | N | 0.563 | 0.21 | 0.518312163451 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/I | rs1156659564 |
0.181 | 0.997 | N | 0.563 | 0.21 | 0.518312163451 | gnomAD-4.0.0 | 3.72065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.0868E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8355 | likely_pathogenic | 0.7854 | pathogenic | -2.001 | Highly Destabilizing | 0.999 | D | 0.699 | prob.neutral | N | 0.50537893 | None | None | N |
| V/C | 0.9633 | likely_pathogenic | 0.9551 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| V/D | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -2.726 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.529105499 | None | None | N |
| V/E | 0.9979 | likely_pathogenic | 0.9965 | pathogenic | -2.409 | Highly Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| V/F | 0.9415 | likely_pathogenic | 0.9244 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.495908729 | None | None | N |
| V/G | 0.965 | likely_pathogenic | 0.9491 | pathogenic | -2.621 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.528852009 | None | None | N |
| V/H | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -2.619 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| V/I | 0.1011 | likely_benign | 0.1066 | benign | -0.211 | Destabilizing | 0.997 | D | 0.563 | neutral | N | 0.477613614 | None | None | N |
| V/K | 0.9986 | likely_pathogenic | 0.9977 | pathogenic | -1.385 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| V/L | 0.4701 | ambiguous | 0.4575 | ambiguous | -0.211 | Destabilizing | 0.997 | D | 0.699 | prob.neutral | N | 0.417650086 | None | None | N |
| V/M | 0.7969 | likely_pathogenic | 0.7399 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| V/N | 0.9977 | likely_pathogenic | 0.9961 | pathogenic | -2.019 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/P | 0.9975 | likely_pathogenic | 0.9961 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| V/Q | 0.9973 | likely_pathogenic | 0.9955 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| V/R | 0.9968 | likely_pathogenic | 0.9951 | pathogenic | -1.639 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/S | 0.9858 | likely_pathogenic | 0.9764 | pathogenic | -2.596 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| V/T | 0.9507 | likely_pathogenic | 0.9254 | pathogenic | -2.107 | Highly Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| V/W | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.633 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/Y | 0.9972 | likely_pathogenic | 0.9956 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.669 | neutral | 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.