Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35461 | 106606;106607;106608 | chr2:178530110;178530109;178530108 | chr2:179394837;179394836;179394835 |
| N2AB | 33820 | 101683;101684;101685 | chr2:178530110;178530109;178530108 | chr2:179394837;179394836;179394835 |
| N2A | 32893 | 98902;98903;98904 | chr2:178530110;178530109;178530108 | chr2:179394837;179394836;179394835 |
| N2B | 26396 | 79411;79412;79413 | chr2:178530110;178530109;178530108 | chr2:179394837;179394836;179394835 |
| Novex-1 | 26521 | 79786;79787;79788 | chr2:178530110;178530109;178530108 | chr2:179394837;179394836;179394835 |
| Novex-2 | 26588 | 79987;79988;79989 | chr2:178530110;178530109;178530108 | chr2:179394837;179394836;179394835 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1452738777  |
-0.335 | None | N | 0.106 | 0.147 | 0.0846915920261 | gnomAD-2.1.1 | 4.35E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.79533E-04 |
| T/A | rs1452738777 |
-0.335 | None | N | 0.106 | 0.147 | 0.0846915920261 | gnomAD-4.0.0 | 1.6385E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.08814E-05 |
| T/I | rs773250184 |
-0.003 | None | N | 0.187 | 0.075 | 0.198526703765 | gnomAD-2.1.1 | 8.7E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.86E-05 | None | 0 | 9.28E-06 | 0 |
| T/I | rs773250184 |
-0.003 | None | N | 0.187 | 0.075 | 0.198526703765 | gnomAD-4.0.0 | 3.27724E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.89369E-06 | 1.53638E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0834 | likely_benign | 0.0762 | benign | -0.248 | Destabilizing | None | N | 0.106 | neutral | N | 0.457252277 | None | None | N |
| T/C | 0.4589 | ambiguous | 0.3817 | ambiguous | -0.505 | Destabilizing | 0.177 | N | 0.35 | neutral | None | None | None | None | N |
| T/D | 0.2654 | likely_benign | 0.2309 | benign | 0.239 | Stabilizing | 0.015 | N | 0.407 | neutral | None | None | None | None | N |
| T/E | 0.2211 | likely_benign | 0.1895 | benign | 0.182 | Stabilizing | 0.015 | N | 0.393 | neutral | None | None | None | None | N |
| T/F | 0.1448 | likely_benign | 0.1313 | benign | -0.887 | Destabilizing | 0.096 | N | 0.385 | neutral | None | None | None | None | N |
| T/G | 0.2137 | likely_benign | 0.1869 | benign | -0.34 | Destabilizing | 0.006 | N | 0.353 | neutral | None | None | None | None | N |
| T/H | 0.212 | likely_benign | 0.1843 | benign | -0.418 | Destabilizing | 0.177 | N | 0.331 | neutral | None | None | None | None | N |
| T/I | 0.0893 | likely_benign | 0.0825 | benign | -0.126 | Destabilizing | None | N | 0.187 | neutral | N | 0.472915162 | None | None | N |
| T/K | 0.1618 | likely_benign | 0.1407 | benign | -0.215 | Destabilizing | 0.011 | N | 0.391 | neutral | N | 0.444995055 | None | None | N |
| T/L | 0.0722 | likely_benign | 0.0676 | benign | -0.126 | Destabilizing | 0.001 | N | 0.276 | neutral | None | None | None | None | N |
| T/M | 0.0895 | likely_benign | 0.0825 | benign | -0.345 | Destabilizing | 0.096 | N | 0.341 | neutral | None | None | None | None | N |
| T/N | 0.1 | likely_benign | 0.0893 | benign | -0.206 | Destabilizing | 0.015 | N | 0.237 | neutral | None | None | None | None | N |
| T/P | 0.1079 | likely_benign | 0.0983 | benign | -0.141 | Destabilizing | 0.022 | N | 0.434 | neutral | N | 0.408999757 | None | None | N |
| T/Q | 0.1801 | likely_benign | 0.1576 | benign | -0.309 | Destabilizing | 0.096 | N | 0.393 | neutral | None | None | None | None | N |
| T/R | 0.1324 | likely_benign | 0.1162 | benign | 0.044 | Stabilizing | 0.022 | N | 0.413 | neutral | N | 0.45232646 | None | None | N |
| T/S | 0.0965 | likely_benign | 0.0877 | benign | -0.38 | Destabilizing | None | N | 0.143 | neutral | N | 0.396395819 | None | None | N |
| T/V | 0.1012 | likely_benign | 0.0943 | benign | -0.141 | Destabilizing | None | N | 0.143 | neutral | None | None | None | None | N |
| T/W | 0.491 | ambiguous | 0.4409 | ambiguous | -0.993 | Destabilizing | 0.712 | D | 0.348 | neutral | None | None | None | None | N |
| T/Y | 0.2334 | likely_benign | 0.1997 | benign | -0.645 | Destabilizing | 0.177 | N | 0.362 | 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.