Structural position:
- Domain Type: Ig
- Aligned Position: 54
- Secondary Structure Element:
- Secondary Structure Region:
SAVs
| SAV | Position (IC) | Domain | Position (Domain) | RS | AlphaMissense (IC) |
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/G | 20809 |
Ig-122 |
41 | rs1576068414 |
0.1164 | None | 0.669 | N | 0.303 | 0.182 | 0.216624796971 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02572E-05 |
| A/S | 20809 |
Ig-122 |
41 | rs532844402 |
0.0849 | -0.115 | 0.121 | N | 0.231 | 0.056 | 0.181679512989 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 0 | 0 |
| A/T | 20809 |
Ig-122 |
41 | rs532844402 |
0.0796 | -0.228 | 0.233 | N | 0.272 | 0.05 | 0.202949470691 | gnomAD-2.1.1 | 8.22E-05 | None | None | None | None | N | None | 1.24018E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56306E-04 | 0 |
| A/T | 20809 |
Ig-122 |
41 | rs532844402 |
0.0796 | -0.228 | 0.233 | N | 0.272 | 0.05 | 0.202949470691 | gnomAD-3.1.2 | 1.24964E-04 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.35391E-04 | 0 | 0 |
| A/T | 20809 |
Ig-122 |
41 | rs532844402 |
0.0796 | -0.228 | 0.233 | N | 0.272 | 0.05 | 0.202949470691 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/T | 20809 |
Ig-122 |
41 | rs532844402 |
0.0796 | -0.228 | 0.233 | N | 0.272 | 0.05 | 0.202949470691 | gnomAD-4.0.0 | 1.79776E-04 | None | None | None | None | N | None | 6.66613E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.36565E-04 | 0 | 9.60738E-05 |
| A/V | 20809 |
Ig-122 |
41 | None | 0.1131 | None | 0.022 | N | 0.121 | 0.136 | 0.229924730088 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86015E-06 | 0 | 0 |
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.