Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19666 | 59221;59222;59223 | chr2:178593212;178593211;178593210 | chr2:179457939;179457938;179457937 |
| N2AB | 18025 | 54298;54299;54300 | chr2:178593212;178593211;178593210 | chr2:179457939;179457938;179457937 |
| N2A | 17098 | 51517;51518;51519 | chr2:178593212;178593211;178593210 | chr2:179457939;179457938;179457937 |
| N2B | 10601 | 32026;32027;32028 | chr2:178593212;178593211;178593210 | chr2:179457939;179457938;179457937 |
| Novex-1 | 10726 | 32401;32402;32403 | chr2:178593212;178593211;178593210 | chr2:179457939;179457938;179457937 |
| Novex-2 | 10793 | 32602;32603;32604 | chr2:178593212;178593211;178593210 | chr2:179457939;179457938;179457937 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs776432732  |
-1.338 | 0.999 | D | 0.857 | 0.625 | 0.522611632499 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65893E-04 |
| S/R | rs776432732 |
-0.793 | 1.0 | D | 0.88 | 0.685 | 0.415820034956 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 0 | 0 | 0 |
| S/T | None | None | 0.999 | D | 0.873 | 0.513 | 0.548443230319 | gnomAD-4.0.0 | 1.59211E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43316E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4881 | ambiguous | 0.4879 | ambiguous | -0.682 | Destabilizing | 0.998 | D | 0.815 | deleterious | None | None | None | None | N |
| S/C | 0.7004 | likely_pathogenic | 0.6425 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.530684521 | None | None | N |
| S/D | 0.9969 | likely_pathogenic | 0.9971 | pathogenic | -1.625 | Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| S/E | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -1.513 | Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| S/F | 0.9933 | likely_pathogenic | 0.9915 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| S/G | 0.4145 | ambiguous | 0.5131 | ambiguous | -1.023 | Destabilizing | 0.999 | D | 0.857 | deleterious | D | 0.526694822 | None | None | N |
| S/H | 0.9931 | likely_pathogenic | 0.9922 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| S/I | 0.9832 | likely_pathogenic | 0.9766 | pathogenic | 0.15 | Stabilizing | 1.0 | D | 0.906 | deleterious | D | 0.553054737 | None | None | N |
| S/K | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.916 | Destabilizing | 0.999 | D | 0.862 | deleterious | None | None | None | None | N |
| S/L | 0.9261 | likely_pathogenic | 0.899 | pathogenic | 0.15 | Stabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| S/M | 0.9738 | likely_pathogenic | 0.9678 | pathogenic | 0.177 | Stabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| S/N | 0.9812 | likely_pathogenic | 0.9806 | pathogenic | -1.335 | Destabilizing | 0.999 | D | 0.871 | deleterious | D | 0.570905502 | None | None | N |
| S/P | 0.9938 | likely_pathogenic | 0.9918 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| S/Q | 0.9954 | likely_pathogenic | 0.9952 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| S/R | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.552040779 | None | None | N |
| S/T | 0.6958 | likely_pathogenic | 0.6908 | pathogenic | -1.035 | Destabilizing | 0.999 | D | 0.873 | deleterious | D | 0.545493412 | None | None | N |
| S/V | 0.9678 | likely_pathogenic | 0.9587 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| S/W | 0.9969 | likely_pathogenic | 0.9956 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| S/Y | 0.9939 | likely_pathogenic | 0.9914 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.923 | 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.