Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2447 | 7564;7565;7566 | chr2:178773717;178773716;178773715 | chr2:179638444;179638443;179638442 |
| N2AB | 2447 | 7564;7565;7566 | chr2:178773717;178773716;178773715 | chr2:179638444;179638443;179638442 |
| N2A | 2447 | 7564;7565;7566 | chr2:178773717;178773716;178773715 | chr2:179638444;179638443;179638442 |
| N2B | 2401 | 7426;7427;7428 | chr2:178773717;178773716;178773715 | chr2:179638444;179638443;179638442 |
| Novex-1 | 2401 | 7426;7427;7428 | chr2:178773717;178773716;178773715 | chr2:179638444;179638443;179638442 |
| Novex-2 | 2401 | 7426;7427;7428 | chr2:178773717;178773716;178773715 | chr2:179638444;179638443;179638442 |
| Novex-3 | 2447 | 7564;7565;7566 | chr2:178773717;178773716;178773715 | chr2:179638444;179638443;179638442 |
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/M | rs779064962  |
-0.634 | 0.953 | N | 0.685 | 0.233 | 0.534719010399 | gnomAD-2.1.1 | 2.84E-05 | None | None | None | None | N | None | 4.06E-05 | 5.65E-05 | None | 0 | 5.03E-05 | None | 3.27E-05 | None | 0 | 1.56E-05 | 1.39082E-04 |
| V/M | rs779064962 |
-0.634 | 0.953 | N | 0.685 | 0.233 | 0.534719010399 | gnomAD-3.1.2 | 1.0518E-04 | None | None | None | None | N | None | 0 | 9.17672E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 4.78469E-04 |
| V/M | rs779064962 |
-0.634 | 0.953 | N | 0.685 | 0.233 | 0.534719010399 | gnomAD-4.0.0 | 4.02757E-05 | None | None | None | None | N | None | 2.67008E-05 | 2.83522E-04 | None | 0 | 2.22936E-05 | None | 0 | 0 | 3.22043E-05 | 3.29366E-05 | 6.40184E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4885 | ambiguous | 0.4797 | ambiguous | -1.528 | Destabilizing | 0.296 | N | 0.666 | neutral | N | 0.50875347 | None | None | N |
| V/C | 0.8099 | likely_pathogenic | 0.8108 | pathogenic | -0.992 | Destabilizing | 0.991 | D | 0.767 | deleterious | None | None | None | None | N |
| V/D | 0.8379 | likely_pathogenic | 0.8467 | pathogenic | -1.422 | Destabilizing | 0.906 | D | 0.874 | deleterious | None | None | None | None | N |
| V/E | 0.7897 | likely_pathogenic | 0.7981 | pathogenic | -1.43 | Destabilizing | 0.879 | D | 0.861 | deleterious | N | 0.512719305 | None | None | N |
| V/F | 0.217 | likely_benign | 0.2166 | benign | -1.214 | Destabilizing | 0.826 | D | 0.791 | deleterious | None | None | None | None | N |
| V/G | 0.6373 | likely_pathogenic | 0.6308 | pathogenic | -1.841 | Destabilizing | 0.879 | D | 0.862 | deleterious | N | 0.512284935 | None | None | N |
| V/H | 0.8932 | likely_pathogenic | 0.8958 | pathogenic | -1.431 | Destabilizing | 0.991 | D | 0.87 | deleterious | None | None | None | None | N |
| V/I | 0.0603 | likely_benign | 0.061 | benign | -0.769 | Destabilizing | 0.002 | N | 0.257 | neutral | None | None | None | None | N |
| V/K | 0.8246 | likely_pathogenic | 0.8302 | pathogenic | -1.316 | Destabilizing | 0.906 | D | 0.859 | deleterious | None | None | None | None | N |
| V/L | 0.2084 | likely_benign | 0.2055 | benign | -0.769 | Destabilizing | 0.074 | N | 0.539 | neutral | N | 0.475096056 | None | None | N |
| V/M | 0.1588 | likely_benign | 0.1577 | benign | -0.545 | Destabilizing | 0.953 | D | 0.685 | prob.neutral | N | 0.509626107 | None | None | N |
| V/N | 0.6773 | likely_pathogenic | 0.6788 | pathogenic | -1.077 | Destabilizing | 0.967 | D | 0.87 | deleterious | None | None | None | None | N |
| V/P | 0.8234 | likely_pathogenic | 0.8242 | pathogenic | -0.988 | Destabilizing | 0.967 | D | 0.863 | deleterious | None | None | None | None | N |
| V/Q | 0.8184 | likely_pathogenic | 0.8184 | pathogenic | -1.262 | Destabilizing | 0.967 | D | 0.871 | deleterious | None | None | None | None | N |
| V/R | 0.7944 | likely_pathogenic | 0.7974 | pathogenic | -0.787 | Destabilizing | 0.906 | D | 0.87 | deleterious | None | None | None | None | N |
| V/S | 0.6275 | likely_pathogenic | 0.6153 | pathogenic | -1.581 | Destabilizing | 0.906 | D | 0.84 | deleterious | None | None | None | None | N |
| V/T | 0.4845 | ambiguous | 0.4765 | ambiguous | -1.487 | Destabilizing | 0.575 | D | 0.691 | prob.neutral | None | None | None | None | N |
| V/W | 0.9055 | likely_pathogenic | 0.9094 | pathogenic | -1.414 | Destabilizing | 0.991 | D | 0.858 | deleterious | None | None | None | None | N |
| V/Y | 0.7313 | likely_pathogenic | 0.7375 | pathogenic | -1.134 | Destabilizing | 0.906 | D | 0.772 | 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.