Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19473 | 58642;58643;58644 | chr2:178593976;178593975;178593974 | chr2:179458703;179458702;179458701 |
| N2AB | 17832 | 53719;53720;53721 | chr2:178593976;178593975;178593974 | chr2:179458703;179458702;179458701 |
| N2A | 16905 | 50938;50939;50940 | chr2:178593976;178593975;178593974 | chr2:179458703;179458702;179458701 |
| N2B | 10408 | 31447;31448;31449 | chr2:178593976;178593975;178593974 | chr2:179458703;179458702;179458701 |
| Novex-1 | 10533 | 31822;31823;31824 | chr2:178593976;178593975;178593974 | chr2:179458703;179458702;179458701 |
| Novex-2 | 10600 | 32023;32024;32025 | chr2:178593976;178593975;178593974 | chr2:179458703;179458702;179458701 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs186563991  |
-0.839 | 0.927 | N | 0.531 | 0.317 | 0.402471007487 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| Q/H | rs186563991 |
-0.839 | 0.927 | N | 0.531 | 0.317 | 0.402471007487 | 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 |
| Q/H | rs186563991 |
-0.839 | 0.927 | N | 0.531 | 0.317 | 0.402471007487 | gnomAD-4.0.0 | 6.57479E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47063E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1946 | likely_benign | 0.1985 | benign | -0.31 | Destabilizing | 0.495 | N | 0.417 | neutral | None | None | None | None | N |
| Q/C | 0.5288 | ambiguous | 0.5258 | ambiguous | 0.14 | Stabilizing | 0.995 | D | 0.569 | neutral | None | None | None | None | N |
| Q/D | 0.2245 | likely_benign | 0.2318 | benign | -1.165 | Destabilizing | 0.329 | N | 0.416 | neutral | None | None | None | None | N |
| Q/E | 0.0585 | likely_benign | 0.0569 | benign | -1.085 | Destabilizing | 0.002 | N | 0.167 | neutral | N | 0.466850408 | None | None | N |
| Q/F | 0.5102 | ambiguous | 0.5013 | ambiguous | -0.212 | Destabilizing | 0.981 | D | 0.577 | neutral | None | None | None | None | N |
| Q/G | 0.3364 | likely_benign | 0.3394 | benign | -0.65 | Destabilizing | 0.495 | N | 0.5 | neutral | None | None | None | None | N |
| Q/H | 0.1399 | likely_benign | 0.1394 | benign | -0.808 | Destabilizing | 0.927 | D | 0.531 | neutral | N | 0.479745134 | None | None | N |
| Q/I | 0.2239 | likely_benign | 0.2249 | benign | 0.543 | Stabilizing | 0.893 | D | 0.591 | neutral | None | None | None | None | N |
| Q/K | 0.1029 | likely_benign | 0.0991 | benign | -0.278 | Destabilizing | 0.27 | N | 0.431 | neutral | N | 0.465447685 | None | None | N |
| Q/L | 0.0962 | likely_benign | 0.094 | benign | 0.543 | Stabilizing | 0.642 | D | 0.529 | neutral | N | 0.493943796 | None | None | N |
| Q/M | 0.2543 | likely_benign | 0.2586 | benign | 1.096 | Stabilizing | 0.981 | D | 0.547 | neutral | None | None | None | None | N |
| Q/N | 0.1839 | likely_benign | 0.2037 | benign | -0.844 | Destabilizing | 0.031 | N | 0.165 | neutral | None | None | None | None | N |
| Q/P | 0.313 | likely_benign | 0.3112 | benign | 0.29 | Stabilizing | 0.784 | D | 0.569 | neutral | N | 0.489606804 | None | None | N |
| Q/R | 0.1068 | likely_benign | 0.0975 | benign | -0.242 | Destabilizing | 0.642 | D | 0.421 | neutral | N | 0.478878343 | None | None | N |
| Q/S | 0.1848 | likely_benign | 0.1949 | benign | -0.821 | Destabilizing | 0.329 | N | 0.367 | neutral | None | None | None | None | N |
| Q/T | 0.1251 | likely_benign | 0.1279 | benign | -0.564 | Destabilizing | 0.013 | N | 0.275 | neutral | None | None | None | None | N |
| Q/V | 0.1428 | likely_benign | 0.1418 | benign | 0.29 | Stabilizing | 0.704 | D | 0.526 | neutral | None | None | None | None | N |
| Q/W | 0.4197 | ambiguous | 0.3772 | ambiguous | -0.221 | Destabilizing | 0.995 | D | 0.565 | neutral | None | None | None | None | N |
| Q/Y | 0.3111 | likely_benign | 0.3126 | benign | 0.097 | Stabilizing | 0.981 | D | 0.582 | 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.