Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29193 | 87802;87803;87804 | chr2:178557777;178557776;178557775 | chr2:179422504;179422503;179422502 |
| N2AB | 27552 | 82879;82880;82881 | chr2:178557777;178557776;178557775 | chr2:179422504;179422503;179422502 |
| N2A | 26625 | 80098;80099;80100 | chr2:178557777;178557776;178557775 | chr2:179422504;179422503;179422502 |
| N2B | 20128 | 60607;60608;60609 | chr2:178557777;178557776;178557775 | chr2:179422504;179422503;179422502 |
| Novex-1 | 20253 | 60982;60983;60984 | chr2:178557777;178557776;178557775 | chr2:179422504;179422503;179422502 |
| Novex-2 | 20320 | 61183;61184;61185 | chr2:178557777;178557776;178557775 | chr2:179422504;179422503;179422502 |
| 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 | rs1185795292  |
-0.741 | 1.0 | N | 0.527 | 0.346 | 0.296329037015 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.94E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs1185795292 |
-0.741 | 1.0 | N | 0.527 | 0.346 | 0.296329037015 | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76644E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs780827964 |
-0.72 | 1.0 | N | 0.672 | 0.251 | 0.260249123532 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs780827964 |
-0.72 | 1.0 | N | 0.672 | 0.251 | 0.260249123532 | 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/T | rs780827964 |
-0.72 | 1.0 | N | 0.672 | 0.251 | 0.260249123532 | gnomAD-4.0.0 | 5.07456E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.02452E-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 | 0.6485 | likely_pathogenic | 0.6795 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| A/D | 0.9493 | likely_pathogenic | 0.9645 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/E | 0.8959 | likely_pathogenic | 0.9109 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.520961747 | None | None | N |
| A/F | 0.7292 | likely_pathogenic | 0.7815 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| A/G | 0.3644 | ambiguous | 0.409 | ambiguous | -0.576 | Destabilizing | 1.0 | D | 0.527 | neutral | N | 0.4887934 | None | None | N |
| A/H | 0.8993 | likely_pathogenic | 0.9174 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| A/I | 0.5156 | ambiguous | 0.5923 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| A/K | 0.9355 | likely_pathogenic | 0.944 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/L | 0.4 | ambiguous | 0.4501 | ambiguous | -0.31 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| A/M | 0.4991 | ambiguous | 0.5308 | ambiguous | -0.411 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| A/N | 0.7505 | likely_pathogenic | 0.7855 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/P | 0.5488 | ambiguous | 0.6113 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.502567987 | None | None | N |
| A/Q | 0.7521 | likely_pathogenic | 0.7609 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| A/R | 0.8768 | likely_pathogenic | 0.8914 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| A/S | 0.1628 | likely_benign | 0.1836 | benign | -0.732 | Destabilizing | 1.0 | D | 0.512 | neutral | N | 0.502162555 | None | None | N |
| A/T | 0.229 | likely_benign | 0.2425 | benign | -0.753 | Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.482632645 | None | None | N |
| A/V | 0.2861 | likely_benign | 0.3324 | benign | -0.32 | Destabilizing | 1.0 | D | 0.598 | neutral | N | 0.49429522 | None | None | N |
| A/W | 0.9538 | likely_pathogenic | 0.9645 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| A/Y | 0.8655 | likely_pathogenic | 0.9063 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | 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.