Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30936 | 93031;93032;93033 | chr2:178548820;178548819;178548818 | chr2:179413547;179413546;179413545 |
| N2AB | 29295 | 88108;88109;88110 | chr2:178548820;178548819;178548818 | chr2:179413547;179413546;179413545 |
| N2A | 28368 | 85327;85328;85329 | chr2:178548820;178548819;178548818 | chr2:179413547;179413546;179413545 |
| N2B | 21871 | 65836;65837;65838 | chr2:178548820;178548819;178548818 | chr2:179413547;179413546;179413545 |
| Novex-1 | 21996 | 66211;66212;66213 | chr2:178548820;178548819;178548818 | chr2:179413547;179413546;179413545 |
| Novex-2 | 22063 | 66412;66413;66414 | chr2:178548820;178548819;178548818 | chr2:179413547;179413546;179413545 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs200476500  |
-0.126 | None | N | 0.143 | 0.115 | None | gnomAD-2.1.1 | 7.25E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.59889E-04 | 0 |
| V/I | rs200476500 |
-0.126 | None | N | 0.143 | 0.115 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.3231E-04 | 0 | 0 |
| V/I | rs200476500 |
-0.126 | None | N | 0.143 | 0.115 | None | gnomAD-4.0.0 | 1.80439E-04 | None | None | None | None | I | None | 4.00502E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.41565E-04 | 0 | 4.80384E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.239 | likely_benign | 0.2557 | benign | -0.831 | Destabilizing | 0.01 | N | 0.271 | neutral | N | 0.520148962 | None | None | I |
| V/C | 0.639 | likely_pathogenic | 0.6674 | pathogenic | -0.702 | Destabilizing | 0.628 | D | 0.386 | neutral | None | None | None | None | I |
| V/D | 0.607 | likely_pathogenic | 0.6393 | pathogenic | -0.645 | Destabilizing | 0.106 | N | 0.451 | neutral | N | 0.49877429 | None | None | I |
| V/E | 0.4809 | ambiguous | 0.4951 | ambiguous | -0.699 | Destabilizing | 0.136 | N | 0.433 | neutral | None | None | None | None | I |
| V/F | 0.1968 | likely_benign | 0.209 | benign | -0.717 | Destabilizing | 0.055 | N | 0.413 | neutral | N | 0.499788248 | None | None | I |
| V/G | 0.4048 | ambiguous | 0.4442 | ambiguous | -1.055 | Destabilizing | 0.106 | N | 0.439 | neutral | N | 0.499281269 | None | None | I |
| V/H | 0.5714 | likely_pathogenic | 0.588 | pathogenic | -0.514 | Destabilizing | 0.864 | D | 0.408 | neutral | None | None | None | None | I |
| V/I | 0.0588 | likely_benign | 0.0573 | benign | -0.356 | Destabilizing | None | N | 0.143 | neutral | N | 0.489212766 | None | None | I |
| V/K | 0.5304 | ambiguous | 0.5527 | ambiguous | -0.827 | Destabilizing | 0.136 | N | 0.427 | neutral | None | None | None | None | I |
| V/L | 0.1479 | likely_benign | 0.1552 | benign | -0.356 | Destabilizing | 0.001 | N | 0.24 | neutral | D | 0.5283658 | None | None | I |
| V/M | 0.1229 | likely_benign | 0.1249 | benign | -0.419 | Destabilizing | 0.214 | N | 0.353 | neutral | None | None | None | None | I |
| V/N | 0.2949 | likely_benign | 0.3236 | benign | -0.596 | Destabilizing | 0.356 | N | 0.452 | neutral | None | None | None | None | I |
| V/P | 0.805 | likely_pathogenic | 0.831 | pathogenic | -0.479 | Destabilizing | 0.628 | D | 0.429 | neutral | None | None | None | None | I |
| V/Q | 0.4314 | ambiguous | 0.4462 | ambiguous | -0.784 | Destabilizing | 0.628 | D | 0.399 | neutral | None | None | None | None | I |
| V/R | 0.4395 | ambiguous | 0.478 | ambiguous | -0.287 | Destabilizing | 0.356 | N | 0.449 | neutral | None | None | None | None | I |
| V/S | 0.2542 | likely_benign | 0.2844 | benign | -1.007 | Destabilizing | 0.038 | N | 0.36 | neutral | None | None | None | None | I |
| V/T | 0.1331 | likely_benign | 0.1467 | benign | -0.955 | Destabilizing | None | N | 0.156 | neutral | None | None | None | None | I |
| V/W | 0.7993 | likely_pathogenic | 0.8168 | pathogenic | -0.848 | Destabilizing | 0.864 | D | 0.432 | neutral | None | None | None | None | I |
| V/Y | 0.5301 | ambiguous | 0.5369 | ambiguous | -0.563 | Destabilizing | 0.356 | N | 0.411 | neutral | None | None | None | None | I |
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.