Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4846 | 14761;14762;14763 | chr2:178735910;178735909;178735908 | chr2:179600637;179600636;179600635 |
| N2AB | 4529 | 13810;13811;13812 | chr2:178735910;178735909;178735908 | chr2:179600637;179600636;179600635 |
| N2A | 3602 | 11029;11030;11031 | chr2:178735910;178735909;178735908 | chr2:179600637;179600636;179600635 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs752150323  |
0.069 | None | N | 0.07 | 0.091 | 0.209622950755 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs752150323 |
-0.024 | 0.064 | N | 0.259 | 0.114 | 0.255777322467 | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 0 | 1.97975E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 1.40331E-04 |
| A/T | rs752150323 |
-0.024 | 0.064 | N | 0.259 | 0.114 | 0.255777322467 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/T | rs752150323 |
-0.024 | 0.064 | N | 0.259 | 0.114 | 0.255777322467 | gnomAD-4.0.0 | 3.71814E-05 | None | None | None | None | N | None | 1.33543E-05 | 1.83419E-04 | None | 0 | 0 | None | 0 | 0 | 3.55986E-05 | 2.19573E-05 | 6.40348E-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 | 0.354 | ambiguous | 0.3159 | benign | -0.519 | Destabilizing | 0.676 | D | 0.301 | neutral | None | None | None | None | N |
| A/D | 0.1592 | likely_benign | 0.1341 | benign | -0.979 | Destabilizing | None | N | 0.114 | neutral | None | None | None | None | N |
| A/E | 0.1592 | likely_benign | 0.1344 | benign | -1.14 | Destabilizing | None | N | 0.095 | neutral | N | 0.444329177 | None | None | N |
| A/F | 0.197 | likely_benign | 0.1697 | benign | -1.041 | Destabilizing | 0.214 | N | 0.457 | neutral | None | None | None | None | N |
| A/G | 0.11 | likely_benign | 0.0989 | benign | -0.449 | Destabilizing | 0.012 | N | 0.229 | neutral | D | 0.528816825 | None | None | N |
| A/H | 0.2946 | likely_benign | 0.2514 | benign | -0.654 | Destabilizing | 0.356 | N | 0.412 | neutral | None | None | None | None | N |
| A/I | 0.1361 | likely_benign | 0.1134 | benign | -0.387 | Destabilizing | 0.013 | N | 0.349 | neutral | None | None | None | None | N |
| A/K | 0.2211 | likely_benign | 0.1779 | benign | -0.861 | Destabilizing | 0.016 | N | 0.366 | neutral | None | None | None | None | N |
| A/L | 0.1232 | likely_benign | 0.1069 | benign | -0.387 | Destabilizing | 0.016 | N | 0.373 | neutral | None | None | None | None | N |
| A/M | 0.1416 | likely_benign | 0.1215 | benign | -0.247 | Destabilizing | 0.214 | N | 0.333 | neutral | None | None | None | None | N |
| A/N | 0.1455 | likely_benign | 0.1264 | benign | -0.362 | Destabilizing | 0.038 | N | 0.393 | neutral | None | None | None | None | N |
| A/P | 0.3889 | ambiguous | 0.2947 | benign | -0.351 | Destabilizing | 0.13 | N | 0.409 | neutral | D | 0.561258876 | None | None | N |
| A/Q | 0.2225 | likely_benign | 0.1871 | benign | -0.697 | Destabilizing | 0.072 | N | 0.411 | neutral | None | None | None | None | N |
| A/R | 0.2012 | likely_benign | 0.1678 | benign | -0.33 | Destabilizing | 0.072 | N | 0.405 | neutral | None | None | None | None | N |
| A/S | 0.0783 | likely_benign | 0.0774 | benign | -0.468 | Destabilizing | None | N | 0.07 | neutral | N | 0.502686848 | None | None | N |
| A/T | 0.0681 | likely_benign | 0.0665 | benign | -0.568 | Destabilizing | 0.064 | N | 0.259 | neutral | N | 0.505789333 | None | None | N |
| A/V | 0.0853 | likely_benign | 0.0759 | benign | -0.351 | Destabilizing | None | N | 0.082 | neutral | N | 0.498913073 | None | None | N |
| A/W | 0.5238 | ambiguous | 0.4601 | ambiguous | -1.217 | Destabilizing | 0.864 | D | 0.457 | neutral | None | None | None | None | N |
| A/Y | 0.2911 | likely_benign | 0.2465 | benign | -0.877 | Destabilizing | 0.356 | N | 0.441 | 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.