Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24131 | 72616;72617;72618 | chr2:178573741;178573740;178573739 | chr2:179438468;179438467;179438466 |
| N2AB | 22490 | 67693;67694;67695 | chr2:178573741;178573740;178573739 | chr2:179438468;179438467;179438466 |
| N2A | 21563 | 64912;64913;64914 | chr2:178573741;178573740;178573739 | chr2:179438468;179438467;179438466 |
| N2B | 15066 | 45421;45422;45423 | chr2:178573741;178573740;178573739 | chr2:179438468;179438467;179438466 |
| Novex-1 | 15191 | 45796;45797;45798 | chr2:178573741;178573740;178573739 | chr2:179438468;179438467;179438466 |
| Novex-2 | 15258 | 45997;45998;45999 | chr2:178573741;178573740;178573739 | chr2:179438468;179438467;179438466 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs1334813711  |
0.028 | 0.003 | N | 0.364 | 0.245 | 0.163833314356 | gnomAD-2.1.1 | 4.65E-06 | None | None | None | None | N | None | 6.66E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/D | rs1334813711 |
0.028 | 0.003 | N | 0.364 | 0.245 | 0.163833314356 | gnomAD-4.0.0 | 7.03795E-07 | None | None | None | None | N | None | 3.13991E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | None | None | 0.166 | N | 0.264 | 0.069 | 0.0884992946249 | gnomAD-4.0.0 | 7.03795E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.14344E-07 | 0 | 0 |
| A/P | None | None | 0.662 | N | 0.511 | 0.142 | 0.151104730317 | gnomAD-4.0.0 | 2.81405E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.74237E-06 | 0 | 1.70648E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.275 | likely_benign | 0.2777 | benign | -0.794 | Destabilizing | 0.965 | D | 0.469 | neutral | None | None | None | None | N |
| A/D | 0.1575 | likely_benign | 0.1793 | benign | -0.336 | Destabilizing | 0.003 | N | 0.364 | neutral | N | 0.446522703 | None | None | N |
| A/E | 0.1369 | likely_benign | 0.1417 | benign | -0.406 | Destabilizing | 0.209 | N | 0.323 | neutral | None | None | None | None | N |
| A/F | 0.1892 | likely_benign | 0.2113 | benign | -0.705 | Destabilizing | 0.818 | D | 0.583 | neutral | None | None | None | None | N |
| A/G | 0.1259 | likely_benign | 0.1391 | benign | -0.681 | Destabilizing | 0.166 | N | 0.264 | neutral | N | 0.484945018 | None | None | N |
| A/H | 0.2311 | likely_benign | 0.241 | benign | -0.731 | Destabilizing | 0.009 | N | 0.341 | neutral | None | None | None | None | N |
| A/I | 0.1235 | likely_benign | 0.1355 | benign | -0.161 | Destabilizing | 0.017 | N | 0.281 | neutral | None | None | None | None | N |
| A/K | 0.2328 | likely_benign | 0.2453 | benign | -0.858 | Destabilizing | 0.209 | N | 0.387 | neutral | None | None | None | None | N |
| A/L | 0.0962 | likely_benign | 0.0975 | benign | -0.161 | Destabilizing | 0.209 | N | 0.35 | neutral | None | None | None | None | N |
| A/M | 0.1227 | likely_benign | 0.1323 | benign | -0.301 | Destabilizing | 0.901 | D | 0.481 | neutral | None | None | None | None | N |
| A/N | 0.1439 | likely_benign | 0.1603 | benign | -0.586 | Destabilizing | 0.39 | N | 0.416 | neutral | None | None | None | None | N |
| A/P | 0.4517 | ambiguous | 0.5387 | ambiguous | -0.231 | Destabilizing | 0.662 | D | 0.511 | neutral | N | 0.47145769 | None | None | N |
| A/Q | 0.1832 | likely_benign | 0.1831 | benign | -0.732 | Destabilizing | 0.017 | N | 0.302 | neutral | None | None | None | None | N |
| A/R | 0.2218 | likely_benign | 0.2314 | benign | -0.525 | Destabilizing | 0.39 | N | 0.47 | neutral | None | None | None | None | N |
| A/S | 0.0826 | likely_benign | 0.0857 | benign | -0.931 | Destabilizing | 0.005 | N | 0.163 | neutral | N | 0.440343305 | None | None | N |
| A/T | 0.0668 | likely_benign | 0.0693 | benign | -0.897 | Destabilizing | 0.001 | N | 0.109 | neutral | N | 0.369040567 | None | None | N |
| A/V | 0.0797 | likely_benign | 0.0818 | benign | -0.231 | Destabilizing | 0.001 | N | 0.157 | neutral | N | 0.401462417 | None | None | N |
| A/W | 0.5081 | ambiguous | 0.5258 | ambiguous | -0.97 | Destabilizing | 0.991 | D | 0.539 | neutral | None | None | None | None | N |
| A/Y | 0.2541 | likely_benign | 0.2738 | benign | -0.574 | Destabilizing | 0.818 | D | 0.587 | 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.