Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29149 | 87670;87671;87672 | chr2:178557909;178557908;178557907 | chr2:179422636;179422635;179422634 |
| N2AB | 27508 | 82747;82748;82749 | chr2:178557909;178557908;178557907 | chr2:179422636;179422635;179422634 |
| N2A | 26581 | 79966;79967;79968 | chr2:178557909;178557908;178557907 | chr2:179422636;179422635;179422634 |
| N2B | 20084 | 60475;60476;60477 | chr2:178557909;178557908;178557907 | chr2:179422636;179422635;179422634 |
| Novex-1 | 20209 | 60850;60851;60852 | chr2:178557909;178557908;178557907 | chr2:179422636;179422635;179422634 |
| Novex-2 | 20276 | 61051;61052;61053 | chr2:178557909;178557908;178557907 | chr2:179422636;179422635;179422634 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs758707099  |
0.322 | 0.235 | N | 0.271 | 0.125 | 0.212008924253 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| D/N | rs758707099 |
0.322 | 0.235 | N | 0.271 | 0.125 | 0.212008924253 | gnomAD-4.0.0 | 3.42187E-06 | None | None | None | None | I | None | 0 | 2.23594E-05 | None | 0 | 0 | None | 0 | 1.7343E-04 | 8.99423E-07 | 0 | 3.31301E-05 |
| D/Y | rs758707099 |
0.169 | 1.0 | N | 0.647 | 0.376 | 0.552615868945 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| D/Y | rs758707099 |
0.169 | 1.0 | N | 0.647 | 0.376 | 0.552615868945 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/Y | rs758707099 |
0.169 | 1.0 | N | 0.647 | 0.376 | 0.552615868945 | gnomAD-4.0.0 | 3.09916E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23781E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2274 | likely_benign | 0.2661 | benign | -0.316 | Destabilizing | 0.993 | D | 0.6 | neutral | N | 0.509995391 | None | None | I |
| D/C | 0.6361 | likely_pathogenic | 0.7026 | pathogenic | 0.115 | Stabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | I |
| D/E | 0.1466 | likely_benign | 0.1777 | benign | -0.247 | Destabilizing | 0.977 | D | 0.439 | neutral | N | 0.393939012 | None | None | I |
| D/F | 0.7909 | likely_pathogenic | 0.8233 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | I |
| D/G | 0.1971 | likely_benign | 0.2549 | benign | -0.501 | Destabilizing | 0.955 | D | 0.635 | neutral | N | 0.49533537 | None | None | I |
| D/H | 0.3955 | ambiguous | 0.4708 | ambiguous | -0.124 | Destabilizing | 0.999 | D | 0.688 | prob.neutral | N | 0.470776581 | None | None | I |
| D/I | 0.6522 | likely_pathogenic | 0.7113 | pathogenic | 0.124 | Stabilizing | 0.998 | D | 0.709 | prob.delet. | None | None | None | None | I |
| D/K | 0.55 | ambiguous | 0.6358 | pathogenic | 0.472 | Stabilizing | 0.995 | D | 0.679 | prob.neutral | None | None | None | None | I |
| D/L | 0.6261 | likely_pathogenic | 0.6593 | pathogenic | 0.124 | Stabilizing | 0.998 | D | 0.697 | prob.neutral | None | None | None | None | I |
| D/M | 0.7402 | likely_pathogenic | 0.7854 | pathogenic | 0.305 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| D/N | 0.1053 | likely_benign | 0.1179 | benign | 0.104 | Stabilizing | 0.235 | N | 0.271 | neutral | N | 0.471130359 | None | None | I |
| D/P | 0.9139 | likely_pathogenic | 0.9392 | pathogenic | -0.001 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | I |
| D/Q | 0.4172 | ambiguous | 0.4985 | ambiguous | 0.139 | Stabilizing | 0.995 | D | 0.725 | prob.delet. | None | None | None | None | I |
| D/R | 0.5956 | likely_pathogenic | 0.6742 | pathogenic | 0.561 | Stabilizing | 0.995 | D | 0.667 | neutral | None | None | None | None | I |
| D/S | 0.1488 | likely_benign | 0.1807 | benign | 0.026 | Stabilizing | 0.966 | D | 0.602 | neutral | None | None | None | None | I |
| D/T | 0.3401 | ambiguous | 0.4034 | ambiguous | 0.179 | Stabilizing | 0.995 | D | 0.683 | prob.neutral | None | None | None | None | I |
| D/V | 0.445 | ambiguous | 0.4978 | ambiguous | -0.001 | Destabilizing | 0.997 | D | 0.697 | prob.neutral | N | 0.481030023 | None | None | I |
| D/W | 0.9463 | likely_pathogenic | 0.96 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | I |
| D/Y | 0.4233 | ambiguous | 0.4794 | ambiguous | -0.021 | Destabilizing | 1.0 | D | 0.647 | neutral | N | 0.482297471 | None | None | I |
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.