Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29128 | 87607;87608;87609 | chr2:178557972;178557971;178557970 | chr2:179422699;179422698;179422697 |
| N2AB | 27487 | 82684;82685;82686 | chr2:178557972;178557971;178557970 | chr2:179422699;179422698;179422697 |
| N2A | 26560 | 79903;79904;79905 | chr2:178557972;178557971;178557970 | chr2:179422699;179422698;179422697 |
| N2B | 20063 | 60412;60413;60414 | chr2:178557972;178557971;178557970 | chr2:179422699;179422698;179422697 |
| Novex-1 | 20188 | 60787;60788;60789 | chr2:178557972;178557971;178557970 | chr2:179422699;179422698;179422697 |
| Novex-2 | 20255 | 60988;60989;60990 | chr2:178557972;178557971;178557970 | chr2:179422699;179422698;179422697 |
| 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 | rs1211271683  |
0.397 | 0.027 | N | 0.585 | 0.278 | 0.381071309025 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1211271683 |
0.397 | 0.027 | N | 0.585 | 0.278 | 0.381071309025 | 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 |
| A/V | rs1211271683 |
0.397 | 0.027 | N | 0.585 | 0.278 | 0.381071309025 | gnomAD-4.0.0 | 2.47937E-06 | None | None | None | None | N | None | 1.33447E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54264E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4048 | ambiguous | 0.3515 | ambiguous | -0.759 | Destabilizing | 0.555 | D | 0.691 | prob.neutral | None | None | None | None | N |
| A/D | 0.3165 | likely_benign | 0.2881 | benign | -1.404 | Destabilizing | 0.117 | N | 0.699 | prob.neutral | D | 0.528251157 | None | None | N |
| A/E | 0.3215 | likely_benign | 0.2833 | benign | -1.42 | Destabilizing | 0.149 | N | 0.666 | neutral | None | None | None | None | N |
| A/F | 0.3952 | ambiguous | 0.353 | ambiguous | -1.02 | Destabilizing | 0.555 | D | 0.748 | deleterious | None | None | None | None | N |
| A/G | 0.132 | likely_benign | 0.1257 | benign | -1.21 | Destabilizing | 0.027 | N | 0.602 | neutral | N | 0.502374065 | None | None | N |
| A/H | 0.5189 | ambiguous | 0.4584 | ambiguous | -1.408 | Destabilizing | 0.791 | D | 0.699 | prob.neutral | None | None | None | None | N |
| A/I | 0.271 | likely_benign | 0.2421 | benign | -0.362 | Destabilizing | 0.081 | N | 0.719 | prob.delet. | None | None | None | None | N |
| A/K | 0.5642 | likely_pathogenic | 0.4933 | ambiguous | -1.309 | Destabilizing | 0.149 | N | 0.661 | neutral | None | None | None | None | N |
| A/L | 0.2428 | likely_benign | 0.2149 | benign | -0.362 | Destabilizing | 0.035 | N | 0.633 | neutral | None | None | None | None | N |
| A/M | 0.2229 | likely_benign | 0.2076 | benign | -0.256 | Destabilizing | 0.555 | D | 0.691 | prob.neutral | None | None | None | None | N |
| A/N | 0.2649 | likely_benign | 0.2491 | benign | -1.002 | Destabilizing | 0.149 | N | 0.701 | prob.neutral | None | None | None | None | N |
| A/P | 0.912 | likely_pathogenic | 0.8449 | pathogenic | -0.515 | Destabilizing | 0.211 | N | 0.727 | prob.delet. | N | 0.498751518 | None | None | N |
| A/Q | 0.4108 | ambiguous | 0.3602 | ambiguous | -1.15 | Destabilizing | 0.38 | N | 0.749 | deleterious | None | None | None | None | N |
| A/R | 0.5444 | ambiguous | 0.4703 | ambiguous | -0.921 | Destabilizing | 0.38 | N | 0.739 | prob.delet. | None | None | None | None | N |
| A/S | 0.0887 | likely_benign | 0.0894 | benign | -1.297 | Destabilizing | None | N | 0.163 | neutral | N | 0.450193018 | None | None | N |
| A/T | 0.0787 | likely_benign | 0.0756 | benign | -1.223 | Destabilizing | None | N | 0.175 | neutral | N | 0.508625246 | None | None | N |
| A/V | 0.1355 | likely_benign | 0.1227 | benign | -0.515 | Destabilizing | 0.027 | N | 0.585 | neutral | N | 0.498101609 | None | None | N |
| A/W | 0.8001 | likely_pathogenic | 0.7271 | pathogenic | -1.406 | Destabilizing | 0.935 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/Y | 0.4662 | ambiguous | 0.4067 | ambiguous | -1.0 | Destabilizing | 0.555 | D | 0.745 | deleterious | 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.