Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8999 | 27220;27221;27222 | chr2:178713139;178713138;178713137 | chr2:179577866;179577865;179577864 |
| N2AB | 8682 | 26269;26270;26271 | chr2:178713139;178713138;178713137 | chr2:179577866;179577865;179577864 |
| N2A | 7755 | 23488;23489;23490 | chr2:178713139;178713138;178713137 | chr2:179577866;179577865;179577864 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1281961108  |
-1.926 | None | N | 0.25 | 0.179 | 0.611762621539 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| I/T | rs1281961108 |
-1.926 | None | N | 0.25 | 0.179 | 0.611762621539 | 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 |
| I/T | rs1281961108 |
-1.926 | None | N | 0.25 | 0.179 | 0.611762621539 | gnomAD-4.0.0 | 9.91503E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35619E-05 | 0 | 0 |
| I/V | rs766374343 |
-1.276 | None | N | 0.129 | 0.081 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs766374343 |
-1.276 | None | N | 0.129 | 0.081 | 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 |
| I/V | rs766374343 |
-1.276 | None | N | 0.129 | 0.081 | None | gnomAD-4.0.0 | 6.56987E-06 | None | None | None | None | N | None | 2.41161E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1562 | likely_benign | 0.1605 | benign | -2.023 | Highly Destabilizing | 0.004 | N | 0.327 | neutral | None | None | None | None | N |
| I/C | 0.5179 | ambiguous | 0.531 | ambiguous | -1.333 | Destabilizing | 0.245 | N | 0.477 | neutral | None | None | None | None | N |
| I/D | 0.584 | likely_pathogenic | 0.6537 | pathogenic | -1.714 | Destabilizing | 0.009 | N | 0.509 | neutral | None | None | None | None | N |
| I/E | 0.2968 | likely_benign | 0.3182 | benign | -1.585 | Destabilizing | None | N | 0.511 | neutral | None | None | None | None | N |
| I/F | 0.1234 | likely_benign | 0.1338 | benign | -1.237 | Destabilizing | 0.044 | N | 0.519 | neutral | None | None | None | None | N |
| I/G | 0.5199 | ambiguous | 0.5455 | ambiguous | -2.461 | Highly Destabilizing | 0.018 | N | 0.49 | neutral | None | None | None | None | N |
| I/H | 0.27 | likely_benign | 0.2841 | benign | -1.767 | Destabilizing | None | N | 0.477 | neutral | None | None | None | None | N |
| I/K | 0.126 | likely_benign | 0.1313 | benign | -1.22 | Destabilizing | None | N | 0.483 | neutral | N | 0.429948245 | None | None | N |
| I/L | 0.106 | likely_benign | 0.1114 | benign | -0.817 | Destabilizing | 0.003 | N | 0.315 | neutral | N | 0.485169597 | None | None | N |
| I/M | 0.0855 | likely_benign | 0.0852 | benign | -0.809 | Destabilizing | 0.108 | N | 0.506 | neutral | N | 0.500947126 | None | None | N |
| I/N | 0.2292 | likely_benign | 0.271 | benign | -1.283 | Destabilizing | 0.018 | N | 0.515 | neutral | None | None | None | None | N |
| I/P | 0.9111 | likely_pathogenic | 0.9426 | pathogenic | -1.194 | Destabilizing | 0.085 | N | 0.582 | neutral | None | None | None | None | N |
| I/Q | 0.2051 | likely_benign | 0.2008 | benign | -1.307 | Destabilizing | 0.044 | N | 0.551 | neutral | None | None | None | None | N |
| I/R | 0.0938 | likely_benign | 0.0969 | benign | -0.856 | Destabilizing | None | N | 0.507 | neutral | N | 0.422003553 | None | None | N |
| I/S | 0.1716 | likely_benign | 0.1808 | benign | -2.012 | Highly Destabilizing | 0.009 | N | 0.475 | neutral | None | None | None | None | N |
| I/T | 0.0844 | likely_benign | 0.088 | benign | -1.756 | Destabilizing | None | N | 0.25 | neutral | N | 0.471488223 | None | None | N |
| I/V | 0.0655 | likely_benign | 0.0663 | benign | -1.194 | Destabilizing | None | N | 0.129 | neutral | N | 0.415730941 | None | None | N |
| I/W | 0.5877 | likely_pathogenic | 0.6184 | pathogenic | -1.46 | Destabilizing | 0.788 | D | 0.549 | neutral | None | None | None | None | N |
| I/Y | 0.3661 | ambiguous | 0.3814 | ambiguous | -1.172 | Destabilizing | 0.044 | N | 0.522 | 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.