Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15617 | 47074;47075;47076 | chr2:178618701;178618700;178618699 | chr2:179483428;179483427;179483426 |
| N2AB | 13976 | 42151;42152;42153 | chr2:178618701;178618700;178618699 | chr2:179483428;179483427;179483426 |
| N2A | 13049 | 39370;39371;39372 | chr2:178618701;178618700;178618699 | chr2:179483428;179483427;179483426 |
| N2B | 6552 | 19879;19880;19881 | chr2:178618701;178618700;178618699 | chr2:179483428;179483427;179483426 |
| Novex-1 | 6677 | 20254;20255;20256 | chr2:178618701;178618700;178618699 | chr2:179483428;179483427;179483426 |
| Novex-2 | 6744 | 20455;20456;20457 | chr2:178618701;178618700;178618699 | chr2:179483428;179483427;179483426 |
| 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 | rs1467341061  |
-0.653 | 0.051 | N | 0.307 | 0.042 | 0.180583059064 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| A/T | rs1467341061 |
-0.653 | 0.051 | N | 0.307 | 0.042 | 0.180583059064 | gnomAD-4.0.0 | 1.36969E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0005E-07 | 1.16015E-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 | 0.3657 | ambiguous | 0.4478 | ambiguous | -0.731 | Destabilizing | 0.998 | D | 0.513 | neutral | None | None | None | None | N |
| A/D | 0.1482 | likely_benign | 0.1729 | benign | -0.932 | Destabilizing | 0.934 | D | 0.543 | neutral | N | 0.434423085 | None | None | N |
| A/E | 0.1477 | likely_benign | 0.176 | benign | -1.034 | Destabilizing | 0.842 | D | 0.45 | neutral | None | None | None | None | N |
| A/F | 0.2062 | likely_benign | 0.2598 | benign | -1.041 | Destabilizing | 0.974 | D | 0.571 | neutral | None | None | None | None | N |
| A/G | 0.1029 | likely_benign | 0.1184 | benign | -0.893 | Destabilizing | 0.012 | N | 0.269 | neutral | N | 0.434331622 | None | None | N |
| A/H | 0.2834 | likely_benign | 0.3291 | benign | -1.007 | Destabilizing | 0.998 | D | 0.571 | neutral | None | None | None | None | N |
| A/I | 0.1241 | likely_benign | 0.1564 | benign | -0.475 | Destabilizing | 0.142 | N | 0.393 | neutral | None | None | None | None | N |
| A/K | 0.2171 | likely_benign | 0.2532 | benign | -1.09 | Destabilizing | 0.842 | D | 0.463 | neutral | None | None | None | None | N |
| A/L | 0.0998 | likely_benign | 0.1156 | benign | -0.475 | Destabilizing | 0.525 | D | 0.487 | neutral | None | None | None | None | N |
| A/M | 0.1305 | likely_benign | 0.1719 | benign | -0.361 | Destabilizing | 0.974 | D | 0.491 | neutral | None | None | None | None | N |
| A/N | 0.1221 | likely_benign | 0.1387 | benign | -0.713 | Destabilizing | 0.949 | D | 0.548 | neutral | None | None | None | None | N |
| A/P | 0.0939 | likely_benign | 0.0972 | benign | -0.522 | Destabilizing | 0.012 | N | 0.4 | neutral | N | 0.447519323 | None | None | N |
| A/Q | 0.1856 | likely_benign | 0.2097 | benign | -0.968 | Destabilizing | 0.974 | D | 0.495 | neutral | None | None | None | None | N |
| A/R | 0.2216 | likely_benign | 0.2525 | benign | -0.619 | Destabilizing | 0.974 | D | 0.489 | neutral | None | None | None | None | N |
| A/S | 0.075 | likely_benign | 0.0779 | benign | -0.962 | Destabilizing | 0.669 | D | 0.474 | neutral | N | 0.444250786 | None | None | N |
| A/T | 0.0681 | likely_benign | 0.0762 | benign | -0.988 | Destabilizing | 0.051 | N | 0.307 | neutral | N | 0.438783717 | None | None | N |
| A/V | 0.0854 | likely_benign | 0.1006 | benign | -0.522 | Destabilizing | 0.454 | N | 0.466 | neutral | N | 0.449539738 | None | None | N |
| A/W | 0.4615 | ambiguous | 0.5321 | ambiguous | -1.276 | Destabilizing | 0.998 | D | 0.631 | neutral | None | None | None | None | N |
| A/Y | 0.27 | likely_benign | 0.3171 | benign | -0.924 | Destabilizing | 0.991 | D | 0.579 | 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.