Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33539 | 100840;100841;100842 | chr2:178536132;178536131;178536130 | chr2:179400859;179400858;179400857 |
| N2AB | 31898 | 95917;95918;95919 | chr2:178536132;178536131;178536130 | chr2:179400859;179400858;179400857 |
| N2A | 30971 | 93136;93137;93138 | chr2:178536132;178536131;178536130 | chr2:179400859;179400858;179400857 |
| N2B | 24474 | 73645;73646;73647 | chr2:178536132;178536131;178536130 | chr2:179400859;179400858;179400857 |
| Novex-1 | 24599 | 74020;74021;74022 | chr2:178536132;178536131;178536130 | chr2:179400859;179400858;179400857 |
| Novex-2 | 24666 | 74221;74222;74223 | chr2:178536132;178536131;178536130 | chr2:179400859;179400858;179400857 |
| 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 | rs879142934  |
-0.173 | 0.998 | N | 0.655 | 0.42 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| D/N | rs879142934 |
-0.173 | 0.998 | N | 0.655 | 0.42 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs879142934 |
-0.173 | 0.998 | N | 0.655 | 0.42 | None | gnomAD-4.0.0 | 2.56256E-06 | None | None | None | None | N | None | 1.69125E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84511E-05 |
| D/V | rs762709113 |
0.118 | 0.997 | D | 0.729 | 0.644 | 0.794817679611 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| D/V | rs762709113 |
0.118 | 0.997 | D | 0.729 | 0.644 | 0.794817679611 | gnomAD-4.0.0 | 1.43244E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88281E-05 | 0 | 2.0011E-05 | 0 | 3.02535E-05 |
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 | 0.5312 | ambiguous | 0.4813 | ambiguous | -0.484 | Destabilizing | 0.993 | D | 0.621 | neutral | D | 0.56157336 | None | None | N |
| D/C | 0.9199 | likely_pathogenic | 0.8845 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| D/E | 0.4014 | ambiguous | 0.3404 | ambiguous | -0.327 | Destabilizing | 0.972 | D | 0.569 | neutral | D | 0.531611751 | None | None | N |
| D/F | 0.9546 | likely_pathogenic | 0.9432 | pathogenic | -0.091 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| D/G | 0.408 | ambiguous | 0.362 | ambiguous | -0.74 | Destabilizing | 0.996 | D | 0.653 | neutral | N | 0.519426604 | None | None | N |
| D/H | 0.7682 | likely_pathogenic | 0.7333 | pathogenic | 0.096 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.53478013 | None | None | N |
| D/I | 0.9139 | likely_pathogenic | 0.8889 | pathogenic | 0.164 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/K | 0.8436 | likely_pathogenic | 0.8192 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| D/L | 0.8429 | likely_pathogenic | 0.8195 | pathogenic | 0.164 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| D/M | 0.9423 | likely_pathogenic | 0.928 | pathogenic | 0.281 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/N | 0.1873 | likely_benign | 0.1617 | benign | -0.436 | Destabilizing | 0.998 | D | 0.655 | neutral | N | 0.480062926 | None | None | N |
| D/P | 0.9319 | likely_pathogenic | 0.9128 | pathogenic | -0.029 | Destabilizing | 0.997 | D | 0.688 | prob.neutral | None | None | None | None | N |
| D/Q | 0.7718 | likely_pathogenic | 0.7388 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| D/R | 0.8596 | likely_pathogenic | 0.8434 | pathogenic | 0.395 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| D/S | 0.2818 | likely_benign | 0.2513 | benign | -0.555 | Destabilizing | 0.99 | D | 0.663 | neutral | None | None | None | None | N |
| D/T | 0.5728 | likely_pathogenic | 0.5028 | ambiguous | -0.339 | Destabilizing | 0.735 | D | 0.425 | neutral | None | None | None | None | N |
| D/V | 0.754 | likely_pathogenic | 0.7127 | pathogenic | -0.029 | Destabilizing | 0.997 | D | 0.729 | prob.delet. | D | 0.543541666 | None | None | N |
| D/W | 0.988 | likely_pathogenic | 0.9854 | pathogenic | 0.15 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/Y | 0.7418 | likely_pathogenic | 0.7145 | pathogenic | 0.168 | Stabilizing | 1.0 | D | 0.74 | deleterious | D | 0.551001295 | 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.