Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14793 | 44602;44603;44604 | chr2:178629348;178629347;178629346 | chr2:179494075;179494074;179494073 |
| N2AB | 13152 | 39679;39680;39681 | chr2:178629348;178629347;178629346 | chr2:179494075;179494074;179494073 |
| N2A | 12225 | 36898;36899;36900 | chr2:178629348;178629347;178629346 | chr2:179494075;179494074;179494073 |
| N2B | 5728 | 17407;17408;17409 | chr2:178629348;178629347;178629346 | chr2:179494075;179494074;179494073 |
| Novex-1 | 5853 | 17782;17783;17784 | chr2:178629348;178629347;178629346 | chr2:179494075;179494074;179494073 |
| Novex-2 | 5920 | 17983;17984;17985 | chr2:178629348;178629347;178629346 | chr2:179494075;179494074;179494073 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs1401276737  |
None | 0.046 | N | 0.178 | 0.18 | 0.264081493735 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs1401276737 |
None | 0.046 | N | 0.178 | 0.18 | 0.264081493735 | gnomAD-4.0.0 | 1.31522E-05 | None | None | None | None | N | None | 4.82695E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | None | None | 0.811 | N | 0.442 | 0.31 | 0.589101784295 | gnomAD-4.0.0 | 1.59342E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86192E-06 | 0 | 0 |
| P/Q | rs768644303 |
-0.227 | 0.968 | N | 0.451 | 0.313 | 0.399017061211 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/Q | rs768644303 |
-0.227 | 0.968 | N | 0.451 | 0.313 | 0.399017061211 | gnomAD-4.0.0 | 3.18684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86656E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0804 | likely_benign | 0.0775 | benign | -0.577 | Destabilizing | 0.046 | N | 0.178 | neutral | N | 0.501536968 | None | None | N |
| P/C | 0.5876 | likely_pathogenic | 0.557 | ambiguous | -0.326 | Destabilizing | 0.999 | D | 0.563 | neutral | None | None | None | None | N |
| P/D | 0.3829 | ambiguous | 0.3978 | ambiguous | -0.885 | Destabilizing | 0.851 | D | 0.395 | neutral | None | None | None | None | N |
| P/E | 0.2524 | likely_benign | 0.2579 | benign | -0.967 | Destabilizing | 0.261 | N | 0.203 | neutral | None | None | None | None | N |
| P/F | 0.5233 | ambiguous | 0.5043 | ambiguous | -0.755 | Destabilizing | 0.976 | D | 0.555 | neutral | None | None | None | None | N |
| P/G | 0.3749 | ambiguous | 0.3478 | ambiguous | -0.74 | Destabilizing | 0.919 | D | 0.421 | neutral | None | None | None | None | N |
| P/H | 0.226 | likely_benign | 0.2119 | benign | -0.47 | Destabilizing | 0.999 | D | 0.528 | neutral | None | None | None | None | N |
| P/I | 0.3117 | likely_benign | 0.2788 | benign | -0.267 | Destabilizing | 0.952 | D | 0.436 | neutral | None | None | None | None | N |
| P/K | 0.3082 | likely_benign | 0.3039 | benign | -0.601 | Destabilizing | 0.919 | D | 0.399 | neutral | None | None | None | None | N |
| P/L | 0.1267 | likely_benign | 0.1174 | benign | -0.267 | Destabilizing | 0.811 | D | 0.442 | neutral | N | 0.505965516 | None | None | N |
| P/M | 0.3407 | ambiguous | 0.3065 | benign | -0.343 | Destabilizing | 0.997 | D | 0.527 | neutral | None | None | None | None | N |
| P/N | 0.36 | ambiguous | 0.3322 | benign | -0.214 | Destabilizing | 0.988 | D | 0.533 | neutral | None | None | None | None | N |
| P/Q | 0.1776 | likely_benign | 0.1664 | benign | -0.449 | Destabilizing | 0.968 | D | 0.451 | neutral | N | 0.50415067 | None | None | N |
| P/R | 0.1997 | likely_benign | 0.1915 | benign | -0.125 | Destabilizing | 0.968 | D | 0.527 | neutral | D | 0.534242618 | None | None | N |
| P/S | 0.1299 | likely_benign | 0.1234 | benign | -0.445 | Destabilizing | 0.811 | D | 0.386 | neutral | N | 0.493138779 | None | None | N |
| P/T | 0.1072 | likely_benign | 0.1022 | benign | -0.44 | Destabilizing | 0.896 | D | 0.419 | neutral | N | 0.487810551 | None | None | N |
| P/V | 0.2105 | likely_benign | 0.1843 | benign | -0.338 | Destabilizing | 0.076 | N | 0.271 | neutral | None | None | None | None | N |
| P/W | 0.7046 | likely_pathogenic | 0.6956 | pathogenic | -0.905 | Destabilizing | 0.999 | D | 0.671 | neutral | None | None | None | None | N |
| P/Y | 0.536 | ambiguous | 0.5213 | ambiguous | -0.599 | Destabilizing | 0.988 | D | 0.557 | neutral | 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.