Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35917 | 107974;107975;107976 | chr2:178527239;178527238;178527237 | chr2:179391966;179391965;179391964 |
| N2AB | 34276 | 103051;103052;103053 | chr2:178527239;178527238;178527237 | chr2:179391966;179391965;179391964 |
| N2A | 33349 | 100270;100271;100272 | chr2:178527239;178527238;178527237 | chr2:179391966;179391965;179391964 |
| N2B | 26852 | 80779;80780;80781 | chr2:178527239;178527238;178527237 | chr2:179391966;179391965;179391964 |
| Novex-1 | 26977 | 81154;81155;81156 | chr2:178527239;178527238;178527237 | chr2:179391966;179391965;179391964 |
| Novex-2 | 27044 | 81355;81356;81357 | chr2:178527239;178527238;178527237 | chr2:179391966;179391965;179391964 |
| 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/V | rs1439320895  |
0.219 | 0.939 | N | 0.497 | 0.352 | 0.666169902468 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | -2.356(OBSL1) -0.856(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9127 | likely_pathogenic | 0.8936 | pathogenic | -0.686 | Destabilizing | 0.999 | D | 0.628 | neutral | None | None | None | -2.108(OBSL1) -0.142(OBSCN) | N |
| A/D | 0.9651 | likely_pathogenic | 0.9345 | pathogenic | -0.851 | Destabilizing | 0.982 | D | 0.637 | neutral | N | 0.449344869 | None | -2.229(OBSL1) -0.917(OBSCN) | N |
| A/E | 0.9348 | likely_pathogenic | 0.8897 | pathogenic | -0.958 | Destabilizing | 0.986 | D | 0.615 | neutral | None | None | None | -2.283(OBSL1) -0.975(OBSCN) | N |
| A/F | 0.9002 | likely_pathogenic | 0.8849 | pathogenic | -0.948 | Destabilizing | 0.998 | D | 0.717 | prob.delet. | None | None | None | -2.557(OBSL1) 0.219(OBSCN) | N |
| A/G | 0.5916 | likely_pathogenic | 0.5407 | ambiguous | -0.736 | Destabilizing | 0.885 | D | 0.461 | neutral | N | 0.504526149 | None | -2.079(OBSL1) -0.924(OBSCN) | N |
| A/H | 0.9574 | likely_pathogenic | 0.9431 | pathogenic | -0.858 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | None | None | None | -2.55(OBSL1) 0.053(OBSCN) | N |
| A/I | 0.8934 | likely_pathogenic | 0.869 | pathogenic | -0.332 | Destabilizing | 0.986 | D | 0.661 | neutral | None | None | None | -2.451(OBSL1) -0.843(OBSCN) | N |
| A/K | 0.9779 | likely_pathogenic | 0.9582 | pathogenic | -1.004 | Destabilizing | 0.986 | D | 0.615 | neutral | None | None | None | -2.9(OBSL1) -1.1(OBSCN) | N |
| A/L | 0.7624 | likely_pathogenic | 0.7039 | pathogenic | -0.332 | Destabilizing | 0.953 | D | 0.503 | neutral | None | None | None | -2.451(OBSL1) -0.843(OBSCN) | N |
| A/M | 0.8509 | likely_pathogenic | 0.8337 | pathogenic | -0.277 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | -2.323(OBSL1) -0.121(OBSCN) | N |
| A/N | 0.9038 | likely_pathogenic | 0.8668 | pathogenic | -0.585 | Destabilizing | 0.986 | D | 0.678 | prob.neutral | None | None | None | -2.529(OBSL1) -0.423(OBSCN) | N |
| A/P | 0.9197 | likely_pathogenic | 0.8248 | pathogenic | -0.375 | Destabilizing | 0.991 | D | 0.661 | neutral | N | 0.421120905 | None | -2.356(OBSL1) -0.856(OBSCN) | N |
| A/Q | 0.9002 | likely_pathogenic | 0.8643 | pathogenic | -0.833 | Destabilizing | 0.993 | D | 0.682 | prob.neutral | None | None | None | -2.527(OBSL1) -0.538(OBSCN) | N |
| A/R | 0.9267 | likely_pathogenic | 0.8816 | pathogenic | -0.54 | Destabilizing | 0.986 | D | 0.664 | neutral | None | None | None | -2.983(OBSL1) -1.194(OBSCN) | N |
| A/S | 0.2877 | likely_benign | 0.2666 | benign | -0.826 | Destabilizing | 0.17 | N | 0.426 | neutral | N | 0.419021962 | None | -2.422(OBSL1) -0.485(OBSCN) | N |
| A/T | 0.5169 | ambiguous | 0.469 | ambiguous | -0.85 | Destabilizing | 0.17 | N | 0.307 | neutral | N | 0.434124701 | None | -2.529(OBSL1) -0.538(OBSCN) | N |
| A/V | 0.7047 | likely_pathogenic | 0.6554 | pathogenic | -0.375 | Destabilizing | 0.939 | D | 0.497 | neutral | N | 0.466277192 | None | -2.356(OBSL1) -0.856(OBSCN) | N |
| A/W | 0.9892 | likely_pathogenic | 0.985 | pathogenic | -1.184 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | -2.953(OBSL1) 0.38(OBSCN) | N |
| A/Y | 0.9595 | likely_pathogenic | 0.9476 | pathogenic | -0.819 | Destabilizing | 0.998 | D | 0.714 | prob.delet. | None | None | None | -2.763(OBSL1) 0.403(OBSCN) | 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.