Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19549 | 58870;58871;58872 | chr2:178593655;178593654;178593653 | chr2:179458382;179458381;179458380 |
| N2AB | 17908 | 53947;53948;53949 | chr2:178593655;178593654;178593653 | chr2:179458382;179458381;179458380 |
| N2A | 16981 | 51166;51167;51168 | chr2:178593655;178593654;178593653 | chr2:179458382;179458381;179458380 |
| N2B | 10484 | 31675;31676;31677 | chr2:178593655;178593654;178593653 | chr2:179458382;179458381;179458380 |
| Novex-1 | 10609 | 32050;32051;32052 | chr2:178593655;178593654;178593653 | chr2:179458382;179458381;179458380 |
| Novex-2 | 10676 | 32251;32252;32253 | chr2:178593655;178593654;178593653 | chr2:179458382;179458381;179458380 |
| 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/Y | rs1472080899  |
0.095 | 0.997 | N | 0.785 | 0.433 | 0.341696514166 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| D/Y | rs1472080899 |
0.095 | 0.997 | N | 0.785 | 0.433 | 0.341696514166 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| D/Y | rs1472080899 |
0.095 | 0.997 | N | 0.785 | 0.433 | 0.341696514166 | gnomAD-4.0.0 | 4.33978E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.37952E-05 | 0 | None | 0 | 0 | 1.69559E-06 | 3.2946E-05 | 1.60195E-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 | 0.2086 | likely_benign | 0.1805 | benign | -0.643 | Destabilizing | 0.939 | D | 0.618 | neutral | N | 0.441847602 | None | None | N |
| D/C | 0.6209 | likely_pathogenic | 0.5736 | pathogenic | -0.35 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | N |
| D/E | 0.1335 | likely_benign | 0.12 | benign | -0.755 | Destabilizing | 0.02 | N | 0.205 | neutral | N | 0.34172068 | None | None | N |
| D/F | 0.5942 | likely_pathogenic | 0.5479 | ambiguous | -0.211 | Destabilizing | 0.998 | D | 0.783 | deleterious | None | None | None | None | N |
| D/G | 0.2365 | likely_benign | 0.2143 | benign | -1.018 | Destabilizing | 0.939 | D | 0.633 | neutral | N | 0.403849361 | None | None | N |
| D/H | 0.3164 | likely_benign | 0.283 | benign | -0.558 | Destabilizing | 0.998 | D | 0.741 | deleterious | N | 0.501799983 | None | None | N |
| D/I | 0.3214 | likely_benign | 0.2786 | benign | 0.361 | Stabilizing | 0.993 | D | 0.796 | deleterious | None | None | None | None | N |
| D/K | 0.4283 | ambiguous | 0.3924 | ambiguous | -0.605 | Destabilizing | 0.91 | D | 0.587 | neutral | None | None | None | None | N |
| D/L | 0.3858 | ambiguous | 0.3482 | ambiguous | 0.361 | Stabilizing | 0.986 | D | 0.777 | deleterious | None | None | None | None | N |
| D/M | 0.5788 | likely_pathogenic | 0.5205 | ambiguous | 0.817 | Stabilizing | 0.999 | D | 0.762 | deleterious | None | None | None | None | N |
| D/N | 0.1181 | likely_benign | 0.1072 | benign | -1.031 | Destabilizing | 0.939 | D | 0.575 | neutral | N | 0.442423605 | None | None | N |
| D/P | 0.6567 | likely_pathogenic | 0.5961 | pathogenic | 0.051 | Stabilizing | 0.993 | D | 0.764 | deleterious | None | None | None | None | N |
| D/Q | 0.3377 | likely_benign | 0.3048 | benign | -0.871 | Destabilizing | 0.973 | D | 0.615 | neutral | None | None | None | None | N |
| D/R | 0.4834 | ambiguous | 0.4446 | ambiguous | -0.44 | Destabilizing | 0.986 | D | 0.767 | deleterious | None | None | None | None | N |
| D/S | 0.1516 | likely_benign | 0.1351 | benign | -1.345 | Destabilizing | 0.953 | D | 0.497 | neutral | None | None | None | None | N |
| D/T | 0.2384 | likely_benign | 0.204 | benign | -1.034 | Destabilizing | 0.986 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/V | 0.2035 | likely_benign | 0.1752 | benign | 0.051 | Stabilizing | 0.991 | D | 0.767 | deleterious | N | 0.414258356 | None | None | N |
| D/W | 0.8609 | likely_pathogenic | 0.8321 | pathogenic | -0.052 | Destabilizing | 0.999 | D | 0.7 | prob.neutral | None | None | None | None | N |
| D/Y | 0.2169 | likely_benign | 0.1997 | benign | 0.025 | Stabilizing | 0.997 | D | 0.785 | deleterious | N | 0.477808402 | 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.