Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18827 | 56704;56705;56706 | chr2:178599314;178599313;178599312 | chr2:179464041;179464040;179464039 |
| N2AB | 17186 | 51781;51782;51783 | chr2:178599314;178599313;178599312 | chr2:179464041;179464040;179464039 |
| N2A | 16259 | 49000;49001;49002 | chr2:178599314;178599313;178599312 | chr2:179464041;179464040;179464039 |
| N2B | 9762 | 29509;29510;29511 | chr2:178599314;178599313;178599312 | chr2:179464041;179464040;179464039 |
| Novex-1 | 9887 | 29884;29885;29886 | chr2:178599314;178599313;178599312 | chr2:179464041;179464040;179464039 |
| Novex-2 | 9954 | 30085;30086;30087 | chr2:178599314;178599313;178599312 | chr2:179464041;179464040;179464039 |
| 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/S | rs1280578786  |
-1.221 | 0.625 | N | 0.408 | 0.111 | 0.159798565429 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.1489E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs1280578786 |
-1.221 | 0.625 | N | 0.408 | 0.111 | 0.159798565429 | 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 |
| A/S | rs1280578786 |
-1.221 | 0.625 | N | 0.408 | 0.111 | 0.159798565429 | gnomAD-4.0.0 | 1.31591E-05 | None | None | None | None | N | None | 4.83092E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1280578786 |
None | 0.801 | N | 0.399 | 0.118 | 0.17948927462 | gnomAD-4.0.0 | 1.37184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00563E-07 | 0 | 1.66041E-05 |
| A/V | None | None | 0.891 | N | 0.387 | 0.214 | 0.252681307341 | gnomAD-4.0.0 | 4.8012E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.30401E-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 | 0.554 | ambiguous | 0.5113 | ambiguous | -0.773 | Destabilizing | 0.998 | D | 0.479 | neutral | None | None | None | None | N |
| A/D | 0.3623 | ambiguous | 0.394 | ambiguous | -1.207 | Destabilizing | 0.005 | N | 0.273 | neutral | N | 0.459086568 | None | None | N |
| A/E | 0.3018 | likely_benign | 0.3159 | benign | -1.311 | Destabilizing | 0.029 | N | 0.214 | neutral | None | None | None | None | N |
| A/F | 0.4513 | ambiguous | 0.4523 | ambiguous | -1.103 | Destabilizing | 0.991 | D | 0.56 | neutral | None | None | None | None | N |
| A/G | 0.1497 | likely_benign | 0.1544 | benign | -0.979 | Destabilizing | 0.625 | D | 0.377 | neutral | N | 0.469554278 | None | None | N |
| A/H | 0.5693 | likely_pathogenic | 0.5418 | ambiguous | -1.069 | Destabilizing | 0.991 | D | 0.549 | neutral | None | None | None | None | N |
| A/I | 0.2754 | likely_benign | 0.273 | benign | -0.54 | Destabilizing | 0.974 | D | 0.456 | neutral | None | None | None | None | N |
| A/K | 0.4453 | ambiguous | 0.4412 | ambiguous | -1.248 | Destabilizing | 0.842 | D | 0.409 | neutral | None | None | None | None | N |
| A/L | 0.2453 | likely_benign | 0.2385 | benign | -0.54 | Destabilizing | 0.842 | D | 0.411 | neutral | None | None | None | None | N |
| A/M | 0.2713 | likely_benign | 0.2792 | benign | -0.365 | Destabilizing | 0.998 | D | 0.457 | neutral | None | None | None | None | N |
| A/N | 0.2964 | likely_benign | 0.3003 | benign | -0.826 | Destabilizing | 0.842 | D | 0.485 | neutral | None | None | None | None | N |
| A/P | 0.4931 | ambiguous | 0.3373 | benign | -0.594 | Destabilizing | 0.012 | N | 0.31 | neutral | N | 0.458337207 | None | None | N |
| A/Q | 0.3753 | ambiguous | 0.3534 | ambiguous | -1.104 | Destabilizing | 0.949 | D | 0.409 | neutral | None | None | None | None | N |
| A/R | 0.4689 | ambiguous | 0.4448 | ambiguous | -0.709 | Destabilizing | 0.949 | D | 0.425 | neutral | None | None | None | None | N |
| A/S | 0.1106 | likely_benign | 0.1115 | benign | -1.057 | Destabilizing | 0.625 | D | 0.408 | neutral | N | 0.415277076 | None | None | N |
| A/T | 0.1085 | likely_benign | 0.1134 | benign | -1.09 | Destabilizing | 0.801 | D | 0.399 | neutral | N | 0.443213039 | None | None | N |
| A/V | 0.1478 | likely_benign | 0.1482 | benign | -0.594 | Destabilizing | 0.891 | D | 0.387 | neutral | N | 0.424011203 | None | None | N |
| A/W | 0.7613 | likely_pathogenic | 0.7442 | pathogenic | -1.329 | Destabilizing | 0.998 | D | 0.627 | neutral | None | None | None | None | N |
| A/Y | 0.5325 | ambiguous | 0.5198 | ambiguous | -1.004 | Destabilizing | 0.991 | D | 0.561 | 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.