Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18757 | 56494;56495;56496 | chr2:178599632;178599631;178599630 | chr2:179464359;179464358;179464357 |
| N2AB | 17116 | 51571;51572;51573 | chr2:178599632;178599631;178599630 | chr2:179464359;179464358;179464357 |
| N2A | 16189 | 48790;48791;48792 | chr2:178599632;178599631;178599630 | chr2:179464359;179464358;179464357 |
| N2B | 9692 | 29299;29300;29301 | chr2:178599632;178599631;178599630 | chr2:179464359;179464358;179464357 |
| Novex-1 | 9817 | 29674;29675;29676 | chr2:178599632;178599631;178599630 | chr2:179464359;179464358;179464357 |
| Novex-2 | 9884 | 29875;29876;29877 | chr2:178599632;178599631;178599630 | chr2:179464359;179464358;179464357 |
| 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/T | rs1280256540  |
-0.013 | None | N | 0.122 | 0.138 | 0.104622674875 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs1280256540 |
-0.013 | None | N | 0.122 | 0.138 | 0.104622674875 | gnomAD-4.0.0 | 1.59461E-06 | None | None | None | None | N | None | 0 | 2.29001E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.0705 | likely_benign | 0.0721 | benign | -0.264 | Destabilizing | 0.007 | N | 0.196 | neutral | None | None | None | None | N |
| S/C | 0.1046 | likely_benign | 0.103 | benign | -0.199 | Destabilizing | 0.828 | D | 0.299 | neutral | N | 0.500564812 | None | None | N |
| S/D | 0.2 | likely_benign | 0.2053 | benign | -0.043 | Destabilizing | None | N | 0.115 | neutral | None | None | None | None | N |
| S/E | 0.2514 | likely_benign | 0.2462 | benign | -0.142 | Destabilizing | 0.016 | N | 0.201 | neutral | None | None | None | None | N |
| S/F | 0.1821 | likely_benign | 0.1895 | benign | -0.841 | Destabilizing | 0.214 | N | 0.363 | neutral | None | None | None | None | N |
| S/G | 0.071 | likely_benign | 0.0707 | benign | -0.372 | Destabilizing | 0.012 | N | 0.168 | neutral | N | 0.498519243 | None | None | N |
| S/H | 0.2205 | likely_benign | 0.2093 | benign | -0.784 | Destabilizing | 0.001 | N | 0.175 | neutral | None | None | None | None | N |
| S/I | 0.1187 | likely_benign | 0.1218 | benign | -0.11 | Destabilizing | 0.029 | N | 0.385 | neutral | N | 0.474066766 | None | None | N |
| S/K | 0.3006 | likely_benign | 0.2829 | benign | -0.509 | Destabilizing | None | N | 0.112 | neutral | None | None | None | None | N |
| S/L | 0.0867 | likely_benign | 0.0924 | benign | -0.11 | Destabilizing | None | N | 0.238 | neutral | None | None | None | None | N |
| S/M | 0.1504 | likely_benign | 0.1495 | benign | 0.097 | Stabilizing | 0.214 | N | 0.307 | neutral | None | None | None | None | N |
| S/N | 0.0806 | likely_benign | 0.0805 | benign | -0.178 | Destabilizing | None | N | 0.098 | neutral | N | 0.515142134 | None | None | N |
| S/P | 0.1553 | likely_benign | 0.1827 | benign | -0.133 | Destabilizing | 0.136 | N | 0.353 | neutral | None | None | None | None | N |
| S/Q | 0.2754 | likely_benign | 0.2542 | benign | -0.446 | Destabilizing | 0.003 | N | 0.181 | neutral | None | None | None | None | N |
| S/R | 0.285 | likely_benign | 0.2729 | benign | -0.213 | Destabilizing | None | N | 0.195 | neutral | N | 0.49886596 | None | None | N |
| S/T | 0.0706 | likely_benign | 0.0729 | benign | -0.28 | Destabilizing | None | N | 0.122 | neutral | N | 0.500404755 | None | None | N |
| S/V | 0.1315 | likely_benign | 0.1339 | benign | -0.133 | Destabilizing | 0.038 | N | 0.3 | neutral | None | None | None | None | N |
| S/W | 0.2587 | likely_benign | 0.2581 | benign | -0.876 | Destabilizing | 0.864 | D | 0.341 | neutral | None | None | None | None | N |
| S/Y | 0.166 | likely_benign | 0.1698 | benign | -0.596 | Destabilizing | 0.214 | N | 0.394 | 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.