Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29317 | 88174;88175;88176 | chr2:178557313;178557312;178557311 | chr2:179422040;179422039;179422038 |
| N2AB | 27676 | 83251;83252;83253 | chr2:178557313;178557312;178557311 | chr2:179422040;179422039;179422038 |
| N2A | 26749 | 80470;80471;80472 | chr2:178557313;178557312;178557311 | chr2:179422040;179422039;179422038 |
| N2B | 20252 | 60979;60980;60981 | chr2:178557313;178557312;178557311 | chr2:179422040;179422039;179422038 |
| Novex-1 | 20377 | 61354;61355;61356 | chr2:178557313;178557312;178557311 | chr2:179422040;179422039;179422038 |
| Novex-2 | 20444 | 61555;61556;61557 | chr2:178557313;178557312;178557311 | chr2:179422040;179422039;179422038 |
| 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/G | rs528557883  |
-0.067 | 0.998 | N | 0.527 | 0.326 | 0.406945738958 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs528557883 |
-0.067 | 0.998 | N | 0.527 | 0.326 | 0.406945738958 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs528557883 |
-0.067 | 0.998 | N | 0.527 | 0.326 | 0.406945738958 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/G | rs528557883 |
-0.067 | 0.998 | N | 0.527 | 0.326 | 0.406945738958 | gnomAD-4.0.0 | 6.56556E-06 | None | None | None | None | I | None | 2.40523E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | None | 0.999 | N | 0.654 | 0.254 | 0.428516003163 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4768 | ambiguous | 0.5466 | ambiguous | -0.848 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| A/D | 0.4391 | ambiguous | 0.541 | ambiguous | -0.516 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | N | 0.499567754 | None | None | I |
| A/E | 0.3369 | likely_benign | 0.4094 | ambiguous | -0.673 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| A/F | 0.3764 | ambiguous | 0.4236 | ambiguous | -0.893 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | I |
| A/G | 0.2 | likely_benign | 0.2301 | benign | -0.261 | Destabilizing | 0.998 | D | 0.527 | neutral | N | 0.503853279 | None | None | I |
| A/H | 0.4966 | ambiguous | 0.5924 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| A/I | 0.1825 | likely_benign | 0.209 | benign | -0.377 | Destabilizing | 0.998 | D | 0.623 | neutral | None | None | None | None | I |
| A/K | 0.4783 | ambiguous | 0.6053 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | I |
| A/L | 0.1407 | likely_benign | 0.1722 | benign | -0.377 | Destabilizing | 0.994 | D | 0.439 | neutral | None | None | None | None | I |
| A/M | 0.1756 | likely_benign | 0.2061 | benign | -0.452 | Destabilizing | 0.985 | D | 0.463 | neutral | None | None | None | None | I |
| A/N | 0.289 | likely_benign | 0.3707 | ambiguous | -0.303 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| A/P | 0.3726 | ambiguous | 0.3737 | ambiguous | -0.301 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.507957951 | None | None | I |
| A/Q | 0.346 | ambiguous | 0.4349 | ambiguous | -0.591 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | I |
| A/R | 0.4504 | ambiguous | 0.5487 | ambiguous | -0.079 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| A/S | 0.1095 | likely_benign | 0.1202 | benign | -0.493 | Destabilizing | 0.998 | D | 0.507 | neutral | N | 0.473978663 | None | None | I |
| A/T | 0.0922 | likely_benign | 0.1047 | benign | -0.572 | Destabilizing | 0.999 | D | 0.654 | neutral | N | 0.507667162 | None | None | I |
| A/V | 0.1063 | likely_benign | 0.1184 | benign | -0.301 | Destabilizing | 0.992 | D | 0.485 | neutral | N | 0.502781418 | None | None | I |
| A/W | 0.7733 | likely_pathogenic | 0.8293 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| A/Y | 0.4989 | ambiguous | 0.5764 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | 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.