Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4833 | 14722;14723;14724 | chr2:178735949;178735948;178735947 | chr2:179600676;179600675;179600674 |
| N2AB | 4516 | 13771;13772;13773 | chr2:178735949;178735948;178735947 | chr2:179600676;179600675;179600674 |
| N2A | 3589 | 10990;10991;10992 | chr2:178735949;178735948;178735947 | chr2:179600676;179600675;179600674 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/T | rs1366438638  |
-0.251 | None | N | 0.109 | 0.093 | 0.0297737177859 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| A/T | rs1366438638 |
-0.251 | None | N | 0.109 | 0.093 | 0.0297737177859 | 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 | rs1366438638 |
-0.251 | None | N | 0.109 | 0.093 | 0.0297737177859 | gnomAD-4.0.0 | 6.5716E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46968E-05 | 0 | 0 |
| A/V | rs1284562529 |
0.007 | None | N | 0.155 | 0.093 | 0.256283259241 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| A/V | rs1284562529 |
0.007 | None | N | 0.155 | 0.093 | 0.256283259241 | gnomAD-4.0.0 | 2.05259E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69837E-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 | 0.3472 | ambiguous | 0.2852 | benign | -0.828 | Destabilizing | 0.356 | N | 0.36 | neutral | None | None | None | None | N |
| A/D | 0.1571 | likely_benign | 0.1232 | benign | -0.532 | Destabilizing | None | N | 0.261 | neutral | N | 0.500266614 | None | None | N |
| A/E | 0.1322 | likely_benign | 0.1111 | benign | -0.687 | Destabilizing | 0.016 | N | 0.401 | neutral | None | None | None | None | N |
| A/F | 0.1585 | likely_benign | 0.1277 | benign | -0.936 | Destabilizing | None | N | 0.262 | neutral | None | None | None | None | N |
| A/G | 0.1189 | likely_benign | 0.1012 | benign | -0.372 | Destabilizing | 0.012 | N | 0.281 | neutral | N | 0.496297324 | None | None | N |
| A/H | 0.2589 | likely_benign | 0.2082 | benign | -0.349 | Destabilizing | 0.356 | N | 0.419 | neutral | None | None | None | None | N |
| A/I | 0.1206 | likely_benign | 0.0966 | benign | -0.409 | Destabilizing | None | N | 0.135 | neutral | None | None | None | None | N |
| A/K | 0.1984 | likely_benign | 0.1548 | benign | -0.683 | Destabilizing | 0.038 | N | 0.392 | neutral | None | None | None | None | N |
| A/L | 0.1055 | likely_benign | 0.0879 | benign | -0.409 | Destabilizing | 0.002 | N | 0.261 | neutral | None | None | None | None | N |
| A/M | 0.1268 | likely_benign | 0.1062 | benign | -0.453 | Destabilizing | 0.002 | N | 0.261 | neutral | None | None | None | None | N |
| A/N | 0.1439 | likely_benign | 0.1134 | benign | -0.384 | Destabilizing | 0.038 | N | 0.428 | neutral | None | None | None | None | N |
| A/P | 0.3923 | ambiguous | 0.2955 | benign | -0.35 | Destabilizing | 0.106 | N | 0.427 | neutral | N | 0.511141902 | None | None | N |
| A/Q | 0.1882 | likely_benign | 0.1564 | benign | -0.671 | Destabilizing | 0.214 | N | 0.45 | neutral | None | None | None | None | N |
| A/R | 0.1781 | likely_benign | 0.1506 | benign | -0.182 | Destabilizing | 0.072 | N | 0.432 | neutral | None | None | None | None | N |
| A/S | 0.0806 | likely_benign | 0.0723 | benign | -0.584 | Destabilizing | None | N | 0.159 | neutral | N | 0.480137191 | None | None | N |
| A/T | 0.0673 | likely_benign | 0.0634 | benign | -0.66 | Destabilizing | None | N | 0.109 | neutral | N | 0.484744576 | None | None | N |
| A/V | 0.0784 | likely_benign | 0.0695 | benign | -0.35 | Destabilizing | None | N | 0.155 | neutral | N | 0.398710167 | None | None | N |
| A/W | 0.4871 | ambiguous | 0.3999 | ambiguous | -1.058 | Destabilizing | 0.864 | D | 0.428 | neutral | None | None | None | None | N |
| A/Y | 0.2641 | likely_benign | 0.1992 | benign | -0.725 | Destabilizing | 0.038 | N | 0.487 | 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.