Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9556 | 28891;28892;28893 | chr2:178709653;178709652;178709651 | chr2:179574380;179574379;179574378 |
| N2AB | 9239 | 27940;27941;27942 | chr2:178709653;178709652;178709651 | chr2:179574380;179574379;179574378 |
| N2A | 8312 | 25159;25160;25161 | chr2:178709653;178709652;178709651 | chr2:179574380;179574379;179574378 |
| 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/G | rs1060500482  |
-1.461 | 0.669 | None | 0.482 | 0.402 | 0.350746614512 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| A/G | rs1060500482 |
-1.461 | 0.669 | None | 0.482 | 0.402 | 0.350746614512 | gnomAD-4.0.0 | 6.84186E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99457E-07 | 0 | 0 |
| A/T | rs1381808931 |
-1.512 | 0.669 | None | 0.485 | 0.221 | 0.268660756437 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| A/T | rs1381808931 |
-1.512 | 0.669 | None | 0.485 | 0.221 | 0.268660756437 | gnomAD-4.0.0 | 1.36836E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7989E-06 | 0 | 0 |
| A/V | rs1060500482 |
-0.562 | 0.012 | None | 0.327 | 0.199 | 0.321672782286 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/V | rs1060500482 |
-0.562 | 0.012 | None | 0.327 | 0.199 | 0.321672782286 | gnomAD-4.0.0 | 5.47349E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.2962E-06 | 1.15934E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7351 | likely_pathogenic | 0.746 | pathogenic | -1.797 | Destabilizing | 0.998 | D | 0.553 | neutral | None | None | None | None | N |
| A/D | 0.9528 | likely_pathogenic | 0.9459 | pathogenic | -2.439 | Highly Destabilizing | 0.949 | D | 0.57 | neutral | None | None | None | None | N |
| A/E | 0.9288 | likely_pathogenic | 0.9207 | pathogenic | -2.352 | Highly Destabilizing | 0.801 | D | 0.556 | neutral | None | None | None | None | N |
| A/F | 0.9098 | likely_pathogenic | 0.8622 | pathogenic | -1.087 | Destabilizing | 0.949 | D | 0.591 | neutral | None | None | None | None | N |
| A/G | 0.2904 | likely_benign | 0.2835 | benign | -1.456 | Destabilizing | 0.669 | D | 0.482 | neutral | None | None | None | None | N |
| A/H | 0.9705 | likely_pathogenic | 0.9642 | pathogenic | -1.563 | Destabilizing | 0.998 | D | 0.532 | neutral | None | None | None | None | N |
| A/I | 0.5631 | ambiguous | 0.5115 | ambiguous | -0.284 | Destabilizing | 0.728 | D | 0.51 | neutral | None | None | None | None | N |
| A/K | 0.9798 | likely_pathogenic | 0.9772 | pathogenic | -1.249 | Destabilizing | 0.842 | D | 0.552 | neutral | None | None | None | None | N |
| A/L | 0.5636 | ambiguous | 0.5474 | ambiguous | -0.284 | Destabilizing | 0.016 | N | 0.327 | neutral | None | None | None | None | N |
| A/M | 0.667 | likely_pathogenic | 0.5928 | pathogenic | -0.654 | Destabilizing | 0.949 | D | 0.579 | neutral | None | None | None | None | N |
| A/N | 0.8805 | likely_pathogenic | 0.8702 | pathogenic | -1.448 | Destabilizing | 0.949 | D | 0.578 | neutral | None | None | None | None | N |
| A/P | 0.5971 | likely_pathogenic | 0.6913 | pathogenic | -0.523 | Destabilizing | 0.966 | D | 0.597 | neutral | None | None | None | None | N |
| A/Q | 0.9405 | likely_pathogenic | 0.9321 | pathogenic | -1.497 | Destabilizing | 0.974 | D | 0.614 | neutral | None | None | None | None | N |
| A/R | 0.9586 | likely_pathogenic | 0.9534 | pathogenic | -1.088 | Destabilizing | 0.949 | D | 0.595 | neutral | None | None | None | None | N |
| A/S | 0.1937 | likely_benign | 0.179 | benign | -1.821 | Destabilizing | 0.022 | N | 0.184 | neutral | None | None | None | None | N |
| A/T | 0.2215 | likely_benign | 0.1948 | benign | -1.629 | Destabilizing | 0.669 | D | 0.485 | neutral | None | None | None | None | N |
| A/V | 0.2694 | likely_benign | 0.2348 | benign | -0.523 | Destabilizing | 0.012 | N | 0.327 | neutral | None | None | None | None | N |
| A/W | 0.9863 | likely_pathogenic | 0.9826 | pathogenic | -1.574 | Destabilizing | 0.998 | D | 0.594 | neutral | None | None | None | None | N |
| A/Y | 0.9571 | likely_pathogenic | 0.9436 | pathogenic | -1.099 | Destabilizing | 0.991 | D | 0.571 | 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.