Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21536 | 64831;64832;64833 | chr2:178585138;178585137;178585136 | chr2:179449865;179449864;179449863 |
| N2AB | 19895 | 59908;59909;59910 | chr2:178585138;178585137;178585136 | chr2:179449865;179449864;179449863 |
| N2A | 18968 | 57127;57128;57129 | chr2:178585138;178585137;178585136 | chr2:179449865;179449864;179449863 |
| N2B | 12471 | 37636;37637;37638 | chr2:178585138;178585137;178585136 | chr2:179449865;179449864;179449863 |
| Novex-1 | 12596 | 38011;38012;38013 | chr2:178585138;178585137;178585136 | chr2:179449865;179449864;179449863 |
| Novex-2 | 12663 | 38212;38213;38214 | chr2:178585138;178585137;178585136 | chr2:179449865;179449864;179449863 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs551977619  |
-0.07 | 1.0 | N | 0.697 | 0.379 | 0.672823973603 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs551977619 |
-0.07 | 1.0 | N | 0.697 | 0.379 | 0.672823973603 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs551977619 |
-0.07 | 1.0 | N | 0.697 | 0.379 | 0.672823973603 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| Y/C | rs551977619 |
-0.07 | 1.0 | N | 0.697 | 0.379 | 0.672823973603 | gnomAD-4.0.0 | 6.56797E-06 | None | None | None | None | I | None | 2.40512E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs1487784985 |
0.487 | 0.999 | N | 0.749 | 0.213 | 0.519460762563 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| Y/H | rs1487784985 |
0.487 | 0.999 | N | 0.749 | 0.213 | 0.519460762563 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/H | rs1487784985 |
0.487 | 0.999 | N | 0.749 | 0.213 | 0.519460762563 | gnomAD-4.0.0 | 2.47949E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54347E-06 | 0 | 1.60174E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.2627 | likely_benign | 0.249 | benign | -1.338 | Destabilizing | 0.991 | D | 0.607 | neutral | None | None | None | None | I |
| Y/C | 0.0993 | likely_benign | 0.0986 | benign | -0.372 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.515068429 | None | None | I |
| Y/D | 0.1416 | likely_benign | 0.122 | benign | 0.497 | Stabilizing | 0.999 | D | 0.706 | prob.neutral | N | 0.464023533 | None | None | I |
| Y/E | 0.3361 | likely_benign | 0.3126 | benign | 0.538 | Stabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | I |
| Y/F | 0.0709 | likely_benign | 0.0748 | benign | -0.473 | Destabilizing | 0.117 | N | 0.357 | neutral | N | 0.49621331 | None | None | I |
| Y/G | 0.3091 | likely_benign | 0.2796 | benign | -1.591 | Destabilizing | 0.998 | D | 0.707 | prob.neutral | None | None | None | None | I |
| Y/H | 0.1382 | likely_benign | 0.1278 | benign | -0.154 | Destabilizing | 0.999 | D | 0.749 | deleterious | N | 0.49182621 | None | None | I |
| Y/I | 0.1754 | likely_benign | 0.1698 | benign | -0.628 | Destabilizing | 0.99 | D | 0.712 | prob.delet. | None | None | None | None | I |
| Y/K | 0.439 | ambiguous | 0.4003 | ambiguous | -0.402 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | I |
| Y/L | 0.2333 | likely_benign | 0.2243 | benign | -0.628 | Destabilizing | 0.966 | D | 0.631 | neutral | None | None | None | None | I |
| Y/M | 0.3091 | likely_benign | 0.315 | benign | -0.496 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | I |
| Y/N | 0.0919 | likely_benign | 0.0832 | benign | -0.699 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | N | 0.459983151 | None | None | I |
| Y/P | 0.4443 | ambiguous | 0.4019 | ambiguous | -0.851 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | I |
| Y/Q | 0.2932 | likely_benign | 0.2709 | benign | -0.589 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | I |
| Y/R | 0.3463 | ambiguous | 0.3042 | benign | -0.099 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | I |
| Y/S | 0.1174 | likely_benign | 0.1076 | benign | -1.213 | Destabilizing | 0.997 | D | 0.709 | prob.delet. | N | 0.471680224 | None | None | I |
| Y/T | 0.1784 | likely_benign | 0.1718 | benign | -1.079 | Destabilizing | 0.998 | D | 0.714 | prob.delet. | None | None | None | None | I |
| Y/V | 0.1588 | likely_benign | 0.1592 | benign | -0.851 | Destabilizing | 0.983 | D | 0.661 | neutral | None | None | None | None | I |
| Y/W | 0.3135 | likely_benign | 0.3065 | benign | -0.323 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | 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.