Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16525 | 49798;49799;49800 | chr2:178613236;178613235;178613234 | chr2:179477963;179477962;179477961 |
| N2AB | 14884 | 44875;44876;44877 | chr2:178613236;178613235;178613234 | chr2:179477963;179477962;179477961 |
| N2A | 13957 | 42094;42095;42096 | chr2:178613236;178613235;178613234 | chr2:179477963;179477962;179477961 |
| N2B | 7460 | 22603;22604;22605 | chr2:178613236;178613235;178613234 | chr2:179477963;179477962;179477961 |
| Novex-1 | 7585 | 22978;22979;22980 | chr2:178613236;178613235;178613234 | chr2:179477963;179477962;179477961 |
| Novex-2 | 7652 | 23179;23180;23181 | chr2:178613236;178613235;178613234 | chr2:179477963;179477962;179477961 |
| 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/A | rs1159979005  |
-2.745 | 0.999 | D | 0.662 | 0.822 | 0.79217308766 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.97E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1159979005 |
-2.745 | 0.999 | D | 0.662 | 0.822 | 0.79217308766 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88018E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1159979005 |
-2.745 | 0.999 | D | 0.662 | 0.822 | 0.79217308766 | gnomAD-4.0.0 | 2.56954E-06 | None | None | None | None | N | None | 0 | 0 | None | 8.19672E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs753821979 |
-0.609 | 0.997 | D | 0.68 | 0.64 | 0.745025147408 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| V/L | rs753821979 |
-0.609 | 0.997 | D | 0.68 | 0.64 | 0.745025147408 | gnomAD-4.0.0 | 1.5967E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44363E-05 | 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 | 0.9101 | likely_pathogenic | 0.8609 | pathogenic | -2.518 | Highly Destabilizing | 0.999 | D | 0.662 | neutral | D | 0.76020308 | None | None | N |
| V/C | 0.9761 | likely_pathogenic | 0.9631 | pathogenic | -1.969 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/D | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -3.58 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| V/E | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -3.281 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.816292727 | None | None | N |
| V/F | 0.9793 | likely_pathogenic | 0.9738 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/G | 0.9617 | likely_pathogenic | 0.9503 | pathogenic | -3.089 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.816292727 | None | None | N |
| V/H | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.964 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/I | 0.1888 | likely_benign | 0.1724 | benign | -0.852 | Destabilizing | 0.998 | D | 0.639 | neutral | None | None | None | None | N |
| V/K | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -2.165 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| V/L | 0.8969 | likely_pathogenic | 0.8723 | pathogenic | -0.852 | Destabilizing | 0.997 | D | 0.68 | prob.neutral | D | 0.632937346 | None | None | N |
| V/M | 0.9421 | likely_pathogenic | 0.9254 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.723906816 | None | None | N |
| V/N | 0.9973 | likely_pathogenic | 0.9968 | pathogenic | -2.803 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| V/P | 0.9976 | likely_pathogenic | 0.9971 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/Q | 0.9978 | likely_pathogenic | 0.9975 | pathogenic | -2.485 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| V/R | 0.9969 | likely_pathogenic | 0.997 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| V/S | 0.9807 | likely_pathogenic | 0.9734 | pathogenic | -3.28 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/T | 0.9535 | likely_pathogenic | 0.9273 | pathogenic | -2.839 | Highly Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| V/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.067 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| V/Y | 0.998 | likely_pathogenic | 0.9978 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.835 | 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.