Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5588 | 16987;16988;16989 | chr2:178732207;178732206;178732205 | chr2:179596934;179596933;179596932 |
| N2AB | 5271 | 16036;16037;16038 | chr2:178732207;178732206;178732205 | chr2:179596934;179596933;179596932 |
| N2A | 4344 | 13255;13256;13257 | chr2:178732207;178732206;178732205 | chr2:179596934;179596933;179596932 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | None | None | None | N | 0.093 | 0.095 | 0.0666544352282 | gnomAD-4.0.0 | 6.84195E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5194E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | None | None | None | N | 0.125 | 0.08 | 0.0482279557977 | gnomAD-4.0.0 | 1.5912E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85819E-06 | 0 | 0 |
| S/R | rs1203421858  |
None | None | N | 0.222 | 0.111 | 0.156986980423 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | rs1203421858 |
None | None | N | 0.222 | 0.111 | 0.156986980423 | gnomAD-4.0.0 | 1.17736E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61043E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.068 | likely_benign | 0.068 | benign | -0.227 | Destabilizing | None | N | 0.082 | neutral | None | None | None | None | N |
| S/C | 0.1034 | likely_benign | 0.1154 | benign | -0.234 | Destabilizing | 0.56 | D | 0.194 | neutral | N | 0.481179883 | None | None | N |
| S/D | 0.0974 | likely_benign | 0.1175 | benign | 0.048 | Stabilizing | None | N | 0.085 | neutral | None | None | None | None | N |
| S/E | 0.1344 | likely_benign | 0.16 | benign | -0.063 | Destabilizing | 0.016 | N | 0.16 | neutral | None | None | None | None | N |
| S/F | 0.1423 | likely_benign | 0.1324 | benign | -0.928 | Destabilizing | 0.356 | N | 0.257 | neutral | None | None | None | None | N |
| S/G | 0.0619 | likely_benign | 0.0675 | benign | -0.292 | Destabilizing | None | N | 0.093 | neutral | N | 0.44000687 | None | None | N |
| S/H | 0.1173 | likely_benign | 0.1452 | benign | -0.713 | Destabilizing | 0.214 | N | 0.179 | neutral | None | None | None | None | N |
| S/I | 0.0928 | likely_benign | 0.0995 | benign | -0.191 | Destabilizing | 0.106 | N | 0.294 | neutral | N | 0.49232399 | None | None | N |
| S/K | 0.1544 | likely_benign | 0.2023 | benign | -0.385 | Destabilizing | 0.016 | N | 0.156 | neutral | None | None | None | None | N |
| S/L | 0.088 | likely_benign | 0.085 | benign | -0.191 | Destabilizing | 0.031 | N | 0.228 | neutral | None | None | None | None | N |
| S/M | 0.1517 | likely_benign | 0.1564 | benign | -0.004 | Destabilizing | 0.628 | D | 0.182 | neutral | None | None | None | None | N |
| S/N | 0.0653 | likely_benign | 0.0699 | benign | -0.083 | Destabilizing | None | N | 0.125 | neutral | N | 0.44245253 | None | None | N |
| S/P | 0.0775 | likely_benign | 0.0727 | benign | -0.177 | Destabilizing | None | N | 0.111 | neutral | None | None | None | None | N |
| S/Q | 0.1482 | likely_benign | 0.1833 | benign | -0.35 | Destabilizing | 0.072 | N | 0.146 | neutral | None | None | None | None | N |
| S/R | 0.1277 | likely_benign | 0.1653 | benign | -0.134 | Destabilizing | None | N | 0.222 | neutral | N | 0.463635878 | None | None | N |
| S/T | 0.0708 | likely_benign | 0.0723 | benign | -0.202 | Destabilizing | 0.012 | N | 0.171 | neutral | N | 0.474756949 | None | None | N |
| S/V | 0.1067 | likely_benign | 0.1161 | benign | -0.177 | Destabilizing | 0.072 | N | 0.255 | neutral | None | None | None | None | N |
| S/W | 0.171 | likely_benign | 0.1738 | benign | -0.977 | Destabilizing | 0.864 | D | 0.233 | neutral | None | None | None | None | N |
| S/Y | 0.1118 | likely_benign | 0.1161 | benign | -0.675 | Destabilizing | 0.356 | N | 0.251 | 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.