Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2582 | 7969;7970;7971 | chr2:178773220;178773219;178773218 | chr2:179637947;179637946;179637945 |
| N2AB | 2582 | 7969;7970;7971 | chr2:178773220;178773219;178773218 | chr2:179637947;179637946;179637945 |
| N2A | 2582 | 7969;7970;7971 | chr2:178773220;178773219;178773218 | chr2:179637947;179637946;179637945 |
| N2B | 2536 | 7831;7832;7833 | chr2:178773220;178773219;178773218 | chr2:179637947;179637946;179637945 |
| Novex-1 | 2536 | 7831;7832;7833 | chr2:178773220;178773219;178773218 | chr2:179637947;179637946;179637945 |
| Novex-2 | 2536 | 7831;7832;7833 | chr2:178773220;178773219;178773218 | chr2:179637947;179637946;179637945 |
| Novex-3 | 2582 | 7969;7970;7971 | chr2:178773220;178773219;178773218 | chr2:179637947;179637946;179637945 |
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 | rs2091790916  |
None | 0.92 | N | 0.478 | 0.261 | 0.368369118721 | gnomAD-4.0.0 | 6.842E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99357E-07 | 0 | 0 |
| A/T | rs1060500576 |
None | 0.134 | N | 0.335 | 0.246 | 0.259761712551 | gnomAD-4.0.0 | 2.40066E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62502E-06 | 0 | 0 |
| A/V | None | None | 0.134 | N | 0.285 | 0.248 | 0.29132392195 | gnomAD-4.0.0 | 5.4736E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19485E-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 | 0.4838 | ambiguous | 0.4365 | ambiguous | -0.539 | Destabilizing | 0.999 | D | 0.547 | neutral | None | None | None | None | N |
| A/D | 0.3757 | ambiguous | 0.3325 | benign | -0.828 | Destabilizing | 0.982 | D | 0.611 | neutral | None | None | None | None | N |
| A/E | 0.2889 | likely_benign | 0.2588 | benign | -0.918 | Destabilizing | 0.92 | D | 0.513 | neutral | N | 0.510958047 | None | None | N |
| A/F | 0.3788 | ambiguous | 0.3512 | ambiguous | -0.887 | Destabilizing | 0.991 | D | 0.648 | neutral | None | None | None | None | N |
| A/G | 0.1568 | likely_benign | 0.1437 | benign | -0.752 | Destabilizing | 0.92 | D | 0.478 | neutral | N | 0.512580661 | None | None | N |
| A/H | 0.5094 | ambiguous | 0.4653 | ambiguous | -0.915 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| A/I | 0.2932 | likely_benign | 0.2674 | benign | -0.286 | Destabilizing | 0.884 | D | 0.513 | neutral | None | None | None | None | N |
| A/K | 0.4327 | ambiguous | 0.3763 | ambiguous | -0.971 | Destabilizing | 0.939 | D | 0.513 | neutral | None | None | None | None | N |
| A/L | 0.2554 | likely_benign | 0.227 | benign | -0.286 | Destabilizing | 0.884 | D | 0.511 | neutral | None | None | None | None | N |
| A/M | 0.2687 | likely_benign | 0.2535 | benign | -0.237 | Destabilizing | 0.991 | D | 0.553 | neutral | None | None | None | None | N |
| A/N | 0.2499 | likely_benign | 0.2242 | benign | -0.52 | Destabilizing | 0.982 | D | 0.612 | neutral | None | None | None | None | N |
| A/P | 0.4853 | ambiguous | 0.4144 | ambiguous | -0.344 | Destabilizing | 0.988 | D | 0.542 | neutral | D | 0.568353212 | None | None | N |
| A/Q | 0.3242 | likely_benign | 0.2976 | benign | -0.743 | Destabilizing | 0.991 | D | 0.563 | neutral | None | None | None | None | N |
| A/R | 0.3975 | ambiguous | 0.3501 | ambiguous | -0.549 | Destabilizing | 0.991 | D | 0.556 | neutral | None | None | None | None | N |
| A/S | 0.0897 | likely_benign | 0.0859 | benign | -0.758 | Destabilizing | 0.159 | N | 0.224 | neutral | N | 0.41211662 | None | None | N |
| A/T | 0.0962 | likely_benign | 0.0892 | benign | -0.767 | Destabilizing | 0.134 | N | 0.335 | neutral | N | 0.512751637 | None | None | N |
| A/V | 0.1501 | likely_benign | 0.1378 | benign | -0.344 | Destabilizing | 0.134 | N | 0.285 | neutral | N | 0.499873248 | None | None | N |
| A/W | 0.7943 | likely_pathogenic | 0.7628 | pathogenic | -1.159 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| A/Y | 0.4651 | ambiguous | 0.4314 | ambiguous | -0.785 | Destabilizing | 0.997 | D | 0.655 | 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.