Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28713 | 86362;86363;86364 | chr2:178559995;178559994;178559993 | chr2:179424722;179424721;179424720 |
| N2AB | 27072 | 81439;81440;81441 | chr2:178559995;178559994;178559993 | chr2:179424722;179424721;179424720 |
| N2A | 26145 | 78658;78659;78660 | chr2:178559995;178559994;178559993 | chr2:179424722;179424721;179424720 |
| N2B | 19648 | 59167;59168;59169 | chr2:178559995;178559994;178559993 | chr2:179424722;179424721;179424720 |
| Novex-1 | 19773 | 59542;59543;59544 | chr2:178559995;178559994;178559993 | chr2:179424722;179424721;179424720 |
| Novex-2 | 19840 | 59743;59744;59745 | chr2:178559995;178559994;178559993 | chr2:179424722;179424721;179424720 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1703047213  |
None | None | N | 0.091 | 0.085 | 0.0846915920261 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/I | rs552631098 |
-0.023 | None | N | 0.287 | 0.086 | None | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 1.29282E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/I | rs552631098 |
-0.023 | None | N | 0.287 | 0.086 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | rs552631098 |
-0.023 | None | N | 0.287 | 0.086 | None | gnomAD-4.0.0 | 2.56239E-06 | None | None | None | None | N | None | 3.38329E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs552631098 |
-0.016 | None | N | 0.126 | 0.071 | 0.0846915920261 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9305E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs552631098 |
-0.016 | None | N | 0.126 | 0.071 | 0.0846915920261 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| S/N | rs552631098 |
-0.016 | None | N | 0.126 | 0.071 | 0.0846915920261 | gnomAD-4.0.0 | 2.56201E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.42907E-05 | None | 0 | 0 | 0 | 1.34005E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0686 | likely_benign | 0.0689 | benign | -0.39 | Destabilizing | 0.002 | N | 0.211 | neutral | None | None | None | None | N |
| S/C | 0.0908 | likely_benign | 0.0816 | benign | -0.335 | Destabilizing | 0.196 | N | 0.421 | neutral | N | 0.517174867 | None | None | N |
| S/D | 0.2532 | likely_benign | 0.2118 | benign | 0.522 | Stabilizing | 0.009 | N | 0.247 | neutral | None | None | None | None | N |
| S/E | 0.3223 | likely_benign | 0.2464 | benign | 0.437 | Stabilizing | 0.018 | N | 0.259 | neutral | None | None | None | None | N |
| S/F | 0.1552 | likely_benign | 0.151 | benign | -1.009 | Destabilizing | None | N | 0.323 | neutral | None | None | None | None | N |
| S/G | 0.0724 | likely_benign | 0.0669 | benign | -0.493 | Destabilizing | None | N | 0.091 | neutral | N | 0.490353625 | None | None | N |
| S/H | 0.2034 | likely_benign | 0.1626 | benign | -0.912 | Destabilizing | 0.138 | N | 0.413 | neutral | None | None | None | None | N |
| S/I | 0.1019 | likely_benign | 0.085 | benign | -0.25 | Destabilizing | None | N | 0.287 | neutral | N | 0.503802925 | None | None | N |
| S/K | 0.3416 | ambiguous | 0.2703 | benign | -0.283 | Destabilizing | None | N | 0.119 | neutral | None | None | None | None | N |
| S/L | 0.0759 | likely_benign | 0.0748 | benign | -0.25 | Destabilizing | 0.004 | N | 0.317 | neutral | None | None | None | None | N |
| S/M | 0.1431 | likely_benign | 0.1248 | benign | -0.12 | Destabilizing | 0.138 | N | 0.416 | neutral | None | None | None | None | N |
| S/N | 0.0893 | likely_benign | 0.0818 | benign | -0.07 | Destabilizing | None | N | 0.126 | neutral | N | 0.478635121 | None | None | N |
| S/P | 0.0983 | likely_benign | 0.0958 | benign | -0.269 | Destabilizing | 0.085 | N | 0.431 | neutral | None | None | None | None | N |
| S/Q | 0.3021 | likely_benign | 0.2366 | benign | -0.267 | Destabilizing | 0.044 | N | 0.365 | neutral | None | None | None | None | N |
| S/R | 0.3029 | likely_benign | 0.2398 | benign | -0.133 | Destabilizing | 0.042 | N | 0.433 | neutral | N | 0.474768097 | None | None | N |
| S/T | 0.0582 | likely_benign | 0.0585 | benign | -0.215 | Destabilizing | None | N | 0.081 | neutral | N | 0.396555243 | None | None | N |
| S/V | 0.1165 | likely_benign | 0.1001 | benign | -0.269 | Destabilizing | None | N | 0.241 | neutral | None | None | None | None | N |
| S/W | 0.2687 | likely_benign | 0.2513 | benign | -1.012 | Destabilizing | 0.788 | D | 0.479 | neutral | None | None | None | None | N |
| S/Y | 0.1477 | likely_benign | 0.1408 | benign | -0.712 | Destabilizing | 0.022 | N | 0.559 | 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.